<?xml version="1.0" standalone="yes" ?> <H-Inv> <cDNAXML> <CLUSTER-ID>HIX0005064</CLUSTER-ID> <CLUSTER-ID-VERSION>HIX0005064.18</CLUSTER-ID-VERSION> <H-INVITATIONAL-ID>HIT000053961</H-INVITATIONAL-ID> <H-INVITATIONAL-ID-VERSION>HIT000053961.17</H-INVITATIONAL-ID-VERSION> <ACCESSION-NO>BC053657</ACCESSION-NO> <ACCESSION-NO-VERSION>BC053657.1</ACCESSION-NO-VERSION> <GENOME-STATISTICS>build 37.1</GENOME-STATISTICS> <DIVISION>HUM</DIVISION> <MOL-TYPE>mRNA</MOL-TYPE> <CDNA_DATE-CREATE>26-Mar-2013</CDNA_DATE-CREATE> <CDNA_DATE-LAST-UPDATE>27-May-2015</CDNA_DATE-LAST-UPDATE> <CDNA_DATE-LAST-MODIFIED>27-May-2015</CDNA_DATE-LAST-MODIFIED> <CDNA_H-INV-DB-RELEASE>9.0</CDNA_H-INV-DB-RELEASE> <HIT-RELEASE>9.0</HIT-RELEASE> <CDNA_DATE-ANNOTATION-LAST-UPDATE>27-May-2015</CDNA_DATE-ANNOTATION-LAST-UPDATE> <CDNA_DATE-ANNOTATION-LAST-MODIFIED>27-May-2015</CDNA_DATE-ANNOTATION-LAST-MODIFIED> <HIT-ANNOTATION-RELEASE>9.0</HIT-ANNOTATION-RELEASE> <CHROMOSOME-NUMBER>5</CHROMOSOME-NUMBER> <CHROMOSOME-BAND>5q21.1</CHROMOSOME-BAND> <CDNA_START>100145359</CDNA_START> <CDNA_END>100238970</CDNA_END> <CDNA_STRAND>-</CDNA_STRAND> <CDNA_LOCUS_START>2721</CDNA_LOCUS_START> <CDNA_LOCUS_END>96332</CDNA_LOCUS_END> <CDNA_DB-REFERENCE_KEGG-GENES>7903</CDNA_DB-REFERENCE_KEGG-GENES> <CDNA_DB-REFERENCE_ENTREZGENE>7903</CDNA_DB-REFERENCE_ENTREZGENE> <CDNA_DB-REFERENCE_CCDS>CCDS4091</CDNA_DB-REFERENCE_CCDS> <CDNA_REP-H-INVITATIONAL>Representative transcript</CDNA_REP-H-INVITATIONAL> <CDNA_PROTEIN_REP_H-INVITATIONAL>Representative transcript</CDNA_PROTEIN_REP_H-INVITATIONAL> <CDNA_SPLICING-ISOFORM_CURATION>Splicing isoform</CDNA_SPLICING-ISOFORM_CURATION> <CDNA_H-INVITATIONAL-PROTEIN-ID>HIP000094442</CDNA_H-INVITATIONAL-PROTEIN-ID> <CDNA_H-INVITATIONAL-PROTEIN-ID-VERSION>HIP000094442.1</CDNA_H-INVITATIONAL-PROTEIN-ID-VERSION> <CDNA_DB-REFERENCE_REFSEQ-PROTEIN-ID>NP_005659</CDNA_DB-REFERENCE_REFSEQ-PROTEIN-ID> <CDNA_DB-REFERENCE_UNIPROT-PROTEIN-ID>P61645</CDNA_DB-REFERENCE_UNIPROT-PROTEIN-ID> <CDNA_DB-REFERENCE_UNIPROT-PROTEIN-ID>Q92187</CDNA_DB-REFERENCE_UNIPROT-PROTEIN-ID> <CDNA_DB-REFERENCE_PUBMED>7624364</CDNA_DB-REFERENCE_PUBMED> <CDNA_DB-REFERENCE_PUBMED>11279095</CDNA_DB-REFERENCE_PUBMED> <CDNA_DB-REFERENCE_PUBMED>14702039</CDNA_DB-REFERENCE_PUBMED> <CDNA_DB-REFERENCE_PUBMED>15372022</CDNA_DB-REFERENCE_PUBMED> <CDNA_DB-REFERENCE_PUBMED>15489334</CDNA_DB-REFERENCE_PUBMED> <CDNA_DB-REFERENCE_PUBMED>16959974</CDNA_DB-REFERENCE_PUBMED> <JOURNAL_DB-REFERENCE_MEDLINE>15103394</JOURNAL_DB-REFERENCE_MEDLINE> <MRNA-INSPECTION> <CLONE-NUMBER_ORIGINAL>MGC:61459 IMAGE:5752337</CLONE-NUMBER_ORIGINAL> <TISSUE-TYPE-ORIGIN_ORIGINAL>Brain, Lung, Testis, adult, pooled whole</TISSUE-TYPE-ORIGIN_ORIGINAL> <DATA-PROVIDER>MGC/NCI</DATA-PROVIDER> <LENGTH-OF-CDNA_ORIGINAL>3680</LENGTH-OF-CDNA_ORIGINAL> <NUMBER-OF-EXON_ORIGINAL>5</NUMBER-OF-EXON_ORIGINAL> <NUMBER-OF-A_ORIGINAL>1213</NUMBER-OF-A_ORIGINAL> <NUMBER-OF-T_ORIGINAL>1088</NUMBER-OF-T_ORIGINAL> <NUMBER-OF-G_ORIGINAL>728</NUMBER-OF-G_ORIGINAL> <NUMBER-OF-C_ORIGINAL>651</NUMBER-OF-C_ORIGINAL> </MRNA-INSPECTION> <EVOLUTIONARY-FEATURE> <EVOLUTIONARY-FEATURE_DATE-LAST-UPDATE>27-May-2015</EVOLUTIONARY-FEATURE_DATE-LAST-UPDATE> <EVOLUTIONARY-FEATURE_DATE-LAST-MODIFIED>27-May-2015</EVOLUTIONARY-FEATURE_DATE-LAST-MODIFIED> <EVOLUTIONARY-FEATURE_EVOLUTION-RELEASE>9.0</EVOLUTIONARY-FEATURE_EVOLUTION-RELEASE> <ORTHOLOGY> <ACCESSION-NO>AF008194</ACCESSION-NO> <SPECIES>Gallus sp. (Chicken)</SPECIES> </ORTHOLOGY> <ORTHOLOGY> <ACCESSION-NO>AJ223956</ACCESSION-NO> <SPECIES>Mus sp. (Mouse)</SPECIES> <MGI-ID>MGI:106018</MGI-ID> </ORTHOLOGY> <ORTHOLOGY> <ACCESSION-NO>AJ697661</ACCESSION-NO> <SPECIES>Pan sp. (Chimpanzee)</SPECIES> </ORTHOLOGY> <ORTHOLOGY> <ACCESSION-NO>AJ699421</ACCESSION-NO> <SPECIES>Bos sp. (Cow)</SPECIES> </ORTHOLOGY> <ORTHOLOGY> <ACCESSION-NO>DQ779599</ACCESSION-NO> <SPECIES>Danio sp. (Zebrafish)</SPECIES> </ORTHOLOGY> <ORTHOLOGY> <ACCESSION-NO>ENSMODT00000024487</ACCESSION-NO> <SPECIES>Monodelphis sp. (Opossum)</SPECIES> </ORTHOLOGY> <ORTHOLOGY> <ACCESSION-NO>ENSPPYT00000018219</ACCESSION-NO> <SPECIES>Pongo sp. (Orangutan)</SPECIES> </ORTHOLOGY> <ORTHOLOGY> <ACCESSION-NO>XM_001097339</ACCESSION-NO> <SPECIES>Macaca sp. (Macaque)</SPECIES> </ORTHOLOGY> <ORTHOLOGY> <ACCESSION-NO>XM_001504603</ACCESSION-NO> <SPECIES>Equus sp. (Horse)</SPECIES> </ORTHOLOGY> <ORTHOLOGY> <ACCESSION-NO>XM_546003</ACCESSION-NO> <SPECIES>Canis sp. (Dog)</SPECIES> </ORTHOLOGY> </EVOLUTIONARY-FEATURE> <CDNA-INFO> <SNP> <SNP_START>51</SNP_START> <SNP_END>51</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs200194686</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>G/A</SNP_BASE-CDNA> <SNP_LOCATION>5'UTR</SNP_LOCATION> <SNP_STRAND>+</SNP_STRAND> </SNP> <SNP> <SNP_START>170</SNP_START> <SNP_END>170</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs1428439</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>T/C</SNP_BASE-CDNA> <SNP_LOCATION>5'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>178</SNP_START> <SNP_END>178</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs77888994</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>T/A</SNP_BASE-CDNA> <SNP_LOCATION>5'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>194</SNP_START> <SNP_END>194</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs144473066</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>C/T</SNP_BASE-CDNA> <SNP_LOCATION>5'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>248</SNP_START> <SNP_END>248</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs28617677</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>G/T</SNP_BASE-CDNA> <SNP_LOCATION>5'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>331</SNP_START> <SNP_END>331</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs199768560</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>G/A</SNP_BASE-CDNA> <SNP_LOCATION>CDS</SNP_LOCATION> <SNP_TRANSLATION>Nonsynonymous[Arg7Lys]</SNP_TRANSLATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>481</SNP_START> <SNP_END>481</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs148751339</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>G/A</SNP_BASE-CDNA> <SNP_LOCATION>CDS</SNP_LOCATION> <SNP_TRANSLATION>Nonsynonymous[Arg57Gln]</SNP_TRANSLATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>486</SNP_START> <SNP_END>486</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs140658602</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>G/A</SNP_BASE-CDNA> <SNP_LOCATION>CDS</SNP_LOCATION> <SNP_TRANSLATION>Nonsynonymous[Ala59Thr]</SNP_TRANSLATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>506</SNP_START> <SNP_END>506</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs144123874</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>G/A</SNP_BASE-CDNA> <SNP_LOCATION>CDS</SNP_LOCATION> <SNP_TRANSLATION>Synonymous[Gln65Gln]</SNP_TRANSLATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>571</SNP_START> <SNP_END>571</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs149573011</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>G/A</SNP_BASE-CDNA> <SNP_LOCATION>CDS</SNP_LOCATION> <SNP_TRANSLATION>Nonsynonymous[Arg87His]</SNP_TRANSLATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>603</SNP_START> <SNP_END>603</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs199572556</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>G/A</SNP_BASE-CDNA> <SNP_LOCATION>CDS</SNP_LOCATION> <SNP_TRANSLATION>Nonsynonymous[Val98Ile]</SNP_TRANSLATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>657</SNP_START> <SNP_END>657</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs138152532</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>C/T</SNP_BASE-CDNA> <SNP_LOCATION>CDS</SNP_LOCATION> <SNP_TRANSLATION>Nonsynonymous[Arg116Trp]</SNP_TRANSLATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>658</SNP_START> <SNP_END>658</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs150785295</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>G/A</SNP_BASE-CDNA> <SNP_LOCATION>CDS</SNP_LOCATION> <SNP_TRANSLATION>Nonsynonymous[Arg116Gln]</SNP_TRANSLATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>662</SNP_START> <SNP_END>662</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs111610860</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>A/T</SNP_BASE-CDNA> <SNP_LOCATION>CDS</SNP_LOCATION> <SNP_TRANSLATION>Synonymous[Thr117Thr]</SNP_TRANSLATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>786</SNP_START> <SNP_END>786</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs200594223</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>G/A</SNP_BASE-CDNA> <SNP_LOCATION>CDS</SNP_LOCATION> <SNP_TRANSLATION>Nonsynonymous[Glu159Lys]</SNP_TRANSLATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>803</SNP_START> <SNP_END>803</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs138641468</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>T/C</SNP_BASE-CDNA> <SNP_LOCATION>CDS</SNP_LOCATION> <SNP_TRANSLATION>Synonymous[Asn164Asn]</SNP_TRANSLATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>878</SNP_START> <SNP_END>878</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs201525407</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>C/T</SNP_BASE-CDNA> <SNP_LOCATION>CDS</SNP_LOCATION> <SNP_TRANSLATION>Synonymous[Thr189Thr]</SNP_TRANSLATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>912</SNP_START> <SNP_END>912</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs144812419</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>G/A</SNP_BASE-CDNA> <SNP_LOCATION>CDS</SNP_LOCATION> <SNP_TRANSLATION>Nonsynonymous[Gly201Ser]</SNP_TRANSLATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>913</SNP_START> <SNP_END>913</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs184109088</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>G/A</SNP_BASE-CDNA> <SNP_LOCATION>CDS</SNP_LOCATION> <SNP_TRANSLATION>Nonsynonymous[Gly201Asp]</SNP_TRANSLATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>914</SNP_START> <SNP_END>914</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs191662668</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>C/T</SNP_BASE-CDNA> <SNP_LOCATION>CDS</SNP_LOCATION> <SNP_TRANSLATION>Synonymous[Gly201Gly]</SNP_TRANSLATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>968</SNP_START> <SNP_END>968</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs140878740</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>T/C</SNP_BASE-CDNA> <SNP_LOCATION>CDS</SNP_LOCATION> <SNP_TRANSLATION>Synonymous[Asn219Asn]</SNP_TRANSLATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>1109</SNP_START> <SNP_END>1109</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs148019074</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>T/C</SNP_BASE-CDNA> <SNP_LOCATION>CDS</SNP_LOCATION> <SNP_TRANSLATION>Synonymous[Gly266Gly]</SNP_TRANSLATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>1145</SNP_START> <SNP_END>1145</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs143503881</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>C/T</SNP_BASE-CDNA> <SNP_LOCATION>CDS</SNP_LOCATION> <SNP_TRANSLATION>Synonymous[Pro278Pro]</SNP_TRANSLATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>1190</SNP_START> <SNP_END>1190</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs148811953</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>T/A</SNP_BASE-CDNA> <SNP_LOCATION>CDS</SNP_LOCATION> <SNP_TRANSLATION>Nonsynonymous[Asp293Glu]</SNP_TRANSLATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>1200</SNP_START> <SNP_END>1200</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs145473445</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>C/T</SNP_BASE-CDNA> <SNP_LOCATION>CDS</SNP_LOCATION> <SNP_TRANSLATION>Synonymous[Leu297Leu]</SNP_TRANSLATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>1244</SNP_START> <SNP_END>1244</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs147105549</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>G/A</SNP_BASE-CDNA> <SNP_LOCATION>CDS</SNP_LOCATION> <SNP_TRANSLATION>Synonymous[Ala311Ala]</SNP_TRANSLATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>1327</SNP_START> <SNP_END>1327</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs141895424</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>C/T</SNP_BASE-CDNA> <SNP_LOCATION>CDS</SNP_LOCATION> <SNP_TRANSLATION>Nonsynonymous[Thr339Ile]</SNP_TRANSLATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>1341</SNP_START> <SNP_END>1341</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs200429642</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>C/A</SNP_BASE-CDNA> <SNP_LOCATION>CDS</SNP_LOCATION> <SNP_TRANSLATION>Nonsynonymous[His344Asn]</SNP_TRANSLATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>1362</SNP_START> <SNP_END>1362</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs181265141</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>C/A</SNP_BASE-CDNA> <SNP_LOCATION>CDS</SNP_LOCATION> <SNP_TRANSLATION>Nonsynonymous[Leu351Met]</SNP_TRANSLATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>1372</SNP_START> <SNP_END>1372</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs147924375</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>G/A</SNP_BASE-CDNA> <SNP_LOCATION>CDS</SNP_LOCATION> <SNP_TRANSLATION>Nonsynonymous[Gly354Glu]</SNP_TRANSLATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>1531</SNP_START> <SNP_END>1531</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs113309201</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>A/G</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>1544</SNP_START> <SNP_END>1544</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs3076</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>G/A</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>1558</SNP_START> <SNP_END>1558</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs141593443</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>G/A</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>1639</SNP_START> <SNP_END>1639</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs139860572</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>C/A</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>1678</SNP_START> <SNP_END>1678</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs189920171</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>G/A</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>1733</SNP_START> <SNP_END>1733</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs10075853</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>T/C</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>1820</SNP_START> <SNP_END>1820</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs150522303</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>A/G</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>1917</SNP_START> <SNP_END>1918</SNP_END> <SNP_LOCATION-TYPE>^</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs3842024</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>-/T</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>1920</SNP_START> <SNP_END>1920</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs77924520</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>G/T</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>1920</SNP_START> <SNP_END>1921</SNP_END> <SNP_LOCATION-TYPE>^</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs5869926</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>-/T</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>1922</SNP_START> <SNP_END>1922</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs200066566</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>C/T</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>1999</SNP_START> <SNP_END>1999</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs185904021</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>C/T</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>2020</SNP_START> <SNP_END>2020</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs80313395</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>G/A</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>2026</SNP_START> <SNP_END>2026</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs6864891</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>A/G</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>2070</SNP_START> <SNP_END>2070</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs201098848</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>T/G</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>2071</SNP_START> <SNP_END>2071</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs150564207</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>G/T</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>2177</SNP_START> <SNP_END>2177</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs11748306</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>T/G</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>2190</SNP_START> <SNP_END>2190</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs181783701</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>G/C</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>2211</SNP_START> <SNP_END>2211</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs143586479</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>A/G</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>2267</SNP_START> <SNP_END>2267</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs190562478</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>A/G</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>2496</SNP_START> <SNP_END>2496</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs2544919</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>A/C</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>+</SNP_STRAND> </SNP> <SNP> <SNP_START>2586</SNP_START> <SNP_END>2586</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs79061882</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>A/C</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>2637</SNP_START> <SNP_END>2637</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs187274363</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>A/G</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>2673</SNP_START> <SNP_END>2673</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs181006190</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>T/G</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>2734</SNP_START> <SNP_END>2734</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs189551449</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>T/C</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>2836</SNP_START> <SNP_END>2836</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs142817493</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>T/A</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>2924</SNP_START> <SNP_END>2924</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs73163637</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>T/C</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>3021</SNP_START> <SNP_END>3021</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs191824121</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>A/G</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>3038</SNP_START> <SNP_END>3038</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs138781620</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>T/A</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>3039</SNP_START> <SNP_END>3039</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs112066813</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>T/G</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>3087</SNP_START> <SNP_END>3087</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs77788876</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>A/T</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>3164</SNP_START> <SNP_END>3164</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs2725124</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>T/G</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>+</SNP_STRAND> </SNP> <SNP> <SNP_START>3180</SNP_START> <SNP_END>3180</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs188642219</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>A/T</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>3196</SNP_START> <SNP_END>3196</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs147065508</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>G/T</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>3221</SNP_START> <SNP_END>3221</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs184715869</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>G/C</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>3259</SNP_START> <SNP_END>3259</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs202195846</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>A/G</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>+</SNP_STRAND> </SNP> <SNP> <SNP_START>3260</SNP_START> <SNP_END>3261</SNP_END> <SNP_LOCATION-TYPE>^</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs200238711</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>-/GTGT</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>3260</SNP_START> <SNP_END>3261</SNP_END> <SNP_LOCATION-TYPE>^</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs56881158</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>-/GTGT/GTGTA</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>3274</SNP_START> <SNP_END>3275</SNP_END> <SNP_LOCATION-TYPE>^</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs71964891</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>-/TGTG</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>3275</SNP_START> <SNP_END>3276</SNP_END> <SNP_LOCATION-TYPE>^</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs67471601</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>-/GTGT</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>3277</SNP_START> <SNP_END>3278</SNP_END> <SNP_LOCATION-TYPE>^</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs72115355</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>-/GTGT</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>3340</SNP_START> <SNP_END>3340</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs193067470</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>A/G</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>3355</SNP_START> <SNP_END>3355</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs188919274</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>A/C</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>3427</SNP_START> <SNP_END>3427</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs141692307</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>C/T</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>3557</SNP_START> <SNP_END>3557</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs11584</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>G/T</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <SNP> <SNP_START>3579</SNP_START> <SNP_END>3579</SNP_END> <SNP_LOCATION-TYPE>..</SNP_LOCATION-TYPE> <SNP_DB-REFERENCE_DBSNP>rs145748636</SNP_DB-REFERENCE_DBSNP> <SNP_BASE-CDNA>A/G</SNP_BASE-CDNA> <SNP_LOCATION>3'UTR</SNP_LOCATION> <SNP_STRAND>-</SNP_STRAND> </SNP> <POLYA-SIGNAL> <POLYA-SIGNAL_START>3558</POLYA-SIGNAL_START> <POLYA-SIGNAL_END>3562</POLYA-SIGNAL_END> <POLYA-SIGNAL_STRAND>+</POLYA-SIGNAL_STRAND> </POLYA-SIGNAL> <POLYA> <POLYA_SITE>3586</POLYA_SITE> <POLYA_STRAND>+</POLYA_STRAND> </POLYA> <EXON-CDNA> <EXON-CDNA_START>1</EXON-CDNA_START> <EXON-CDNA_END>424</EXON-CDNA_END> </EXON-CDNA> <EXON-CDNA> <EXON-CDNA_START>425</EXON-CDNA_START> <EXON-CDNA_END>556</EXON-CDNA_END> </EXON-CDNA> <EXON-CDNA> <EXON-CDNA_START>557</EXON-CDNA_START> <EXON-CDNA_END>814</EXON-CDNA_END> </EXON-CDNA> <EXON-CDNA> <EXON-CDNA_START>815</EXON-CDNA_START> <EXON-CDNA_END>1108</EXON-CDNA_END> </EXON-CDNA> <EXON-CDNA> <EXON-CDNA_START>1109</EXON-CDNA_START> <EXON-CDNA_END>3680</EXON-CDNA_END> </EXON-CDNA> <EXON-GENOME> <EXON-GENOME_START>100238547</EXON-GENOME_START> <EXON-GENOME_END>100238970</EXON-GENOME_END> </EXON-GENOME> <EXON-GENOME> <EXON-GENOME_START>100231358</EXON-GENOME_START> <EXON-GENOME_END>100231489</EXON-GENOME_END> </EXON-GENOME> <EXON-GENOME> <EXON-GENOME_START>100222047</EXON-GENOME_START> <EXON-GENOME_END>100222304</EXON-GENOME_END> </EXON-GENOME> <EXON-GENOME> <EXON-GENOME_START>100191807</EXON-GENOME_START> <EXON-GENOME_END>100192100</EXON-GENOME_END> </EXON-GENOME> <EXON-GENOME> <EXON-GENOME_START>100145265</EXON-GENOME_START> <EXON-GENOME_END>100147833</EXON-GENOME_END> </EXON-GENOME> <CDS-GENOME-START>100147551</CDS-GENOME-START> <CDS-GENOME-END>100238659</CDS-GENOME-END> <REPEAT> <REPEAT_START>2055</REPEAT_START> <REPEAT_END>2343</REPEAT_END> <CDNA-INFO_REPEAT_TYPE>AluY</CDNA-INFO_REPEAT_TYPE> <CDNA-INFO_REPEAT_STRAND>-</CDNA-INFO_REPEAT_STRAND> </REPEAT> <REPEAT> <REPEAT_START>3554</REPEAT_START> <REPEAT_END>3680</REPEAT_END> <CDNA-INFO_REPEAT_TYPE>L1MEd</CDNA-INFO_REPEAT_TYPE> <CDNA-INFO_REPEAT_STRAND>+</CDNA-INFO_REPEAT_STRAND> </REPEAT> </CDNA-INFO> <SEQUENCE> <NUCLEOTIDE_ORIGINAL>GCTGCAGAAGCTGCCGCCACCTCCAATGCACAAGGTGTCTCATCTGGAAAGAAACCTGAGCCCCAGGGAGGCGGCGCGGAGCGACCCTGGCAGAGCTGGCGCAAACAGGGCGAGAGGTCGCTGGGCAGCGTTCGAGGACCAGAGGGAGCTCGGCCACAGAAGACCCCAGTGATCTGATCCCGGGATCCCGGCTCCAAGCTCTCCTCGCATTTTACAGATTTCACCCCCGCGACTATCTCCCCAAAACGGAGCCTTTATATCAAGAGAAGGTGCGGGAGCTGGGGCAACCAGGACTTTCTCGGGCACCCAAGATGCGCTCCATTAGGAAGAGGTGGACGATCTGCACAATAAGTCTGCTCCTGATCTTTTATAAGACAAAAGAAATAGCAAGAACTGAGGAGCACCAGGAGACGCAACTCATCGGAGATGGTGAATTGTCTTTGAGTCGGTCACTTGTCAATAGCTCTGATAAAATCATTCGAAAGGCTGGCTCTTCAATCTTCCAGCACAATGTAGAAGGTTGGAAAATCAATTCCTCTTTGGTCCTAGAGATAAGGAAGAACATACTTCGTTTCTTAGATGCAGAACGAGATGTGTCAGTGGTCAAGAGCAGTTTTAAGCCTGGTGATGTCATACACTATGTGCTTGACAGGCGCCGGACACTAAACATTTCTCATGATCTACATAGCCTCCTACCTGAAGTTTCACCAATGAAGAATCGCAGGTTTAAGACCTGTGCAGTTGTTGGAAATTCTGGCATTCTGTTAGACAGTGAATGTGGAAAGGAGATTGACAGTCACAATTTTGTAATAAGGTGTAATCTAGCTCCTGTGGTGGAGTTTGCTGCAGATGTGGGAACTAAATCAGATTTTATTACCATGAATCCATCAGTTGTACAAAGAGCATTTGGAGGCTTTCGAAATGAGAGTGACAGAGAAAAATTTGTGCATAGACTTTCCATGCTGAATGACAGTGTCCTTTGGATTCCTGCTTTCATGGTCAAAGGAGGAGAGAAGCACGTGGAGTGGGTTAATGCATTAATCCTTAAGAATAAACTGAAAGTGCGAACTGCCTATCCGTCATTGAGACTTATTCATGCTGTCAGAGGTTACTGGCTGACCAACAAAGTTCCTATCAAAAGACCCAGCACAGGTCTTCTCATGTATACACTTGCCACAAGATTCTGTGATGAAATTCACCTGTATGGATTCTGGCCCTTCCCTAAGGATTTAAATGGAAAAGCGGTCAAATATCATTATTATGATGACTTAAAATATAGGTACTTTTCCAATGCAAGCCCTCACAGAATGCCATTAGAATTCAAAACATTAAATGTGCTACATAATAGAGGAGCTCTAAAACTGACAACAGGAAAGTGTGTAAAGCAATAAAGCACATTTTGAAACAAACAATATGCACTTCTTTTCTGAAGATGCTTCCGAAGATTTGAAAATAGGATCCAAAACACGGCTGGGTTTCAGCATCCACCAATGAACTGAAAGGTGAATAAAGGACGTTCATGAGAAATCGACTACCAGCTGATGAAATACCTGCAAAGTGCTCTAAAAATTAAATATTTTGACTTTAAGGGTCCTAGTAAGTGCCACTTCCACTAAGAATACAGTTTGAATGTATAATCAGTAGTGTTTACAAGATCCAACAGTGCACTCATCATTAGTTAACAAAGCAAATATGTTCATCACTGTCAGGCTGCCCACAGCAACACCAAGCATATTAGAAGAGGAACCCCAGGAACGCAACTCAGACCTTGGGAAATTAAACCATCCTTGTCAGCAGAAGCCAAGATGGAAGCAGTTTGAGCAATGAAATCCGTAAGATTAAACAACTCAAGTAAATGCTTCAGTCAGGACTCTGAGTCTGATCATGAATTTTATGTTTTAATTTATGTTTTTTTTTTTGTCTTCTGGAATCTCTTTTGGTTTGGATATTGGGATGCTTAGAAATCCTTTCTGAGATGCATATGAGTGAGGAAATAAACTTTAAGTAATTATTTTTAAAGTTCTTATACTTTTTAAAAGCTATCACACAAAGACTTTTTTTTTTTTTTTTGTCTCGCTCTGTTGCCCAGGCTGGAGTACAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCAAGTTCACTCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTGCAGGCGCCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTGGAGACGGATTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCGACATTTTTAAAAAAGTTTTATTTTGCACGGCTCTAAACCTCCATGTTATTTTCCAGTGGTGTAGAAGGTACCAGCTAAAGTGAACCACTATGTAATATTAGGCCATTCTAAAGGAAAGATGTTCCATGTCATCAGAGATGGTAAAATAGGCAGGGAAAAAAAAATCTTTGGTACCAAAGATTACACTTGTGTTTCTACACAGCAAACCATTTTTCTTTCATGAAAATAATATATTATTAACATGAATATATTATTTTGCTATTAATGTGAAAGTTGTCTCTAAATATTTTTTAATTTTCAAACTCATACTTTATTTTCATTTGAAATGTTTTTCACACCTTTTGCATTACATAATAATTTTGTGGAAGCATTTTGCCCTTTAGAATAAATATTAGATTGATATAGCTGAAATGTGACTTCCAGTTCTTTGATATTCCCCTTGTTATTCAAATAGAAATATGGAAATGCTTTATATATTACTGTTAAATTTCTTAGTGCAGAAATAACATTATTAATAGAGTATTGTTTTCAAAACAGATGATTAATTTCAAGAGGTTTAACAGTGAAATTGTGTCAATATTTTGCATTTAAAATGAATTTAATTGACCGATATTTTCTGTAGTTAAATTTAGTCACAATATCACATATGTTCTTCAAGAAACACATGAAATTATTAATAAAGTAATTAAAAAATTTTTAATGTATAACAGAATTGACCAATAGGCCAGTTTTCTGGTAACTTATGATAGTAGATTGTTTCTTTAGAAACTGGGCAGAAGCTCTGCATTCTCACTTGTACTTTGATTTCTTATTTCTTGGTCAGGCAATTTGAGGAAAGAAGAAATGGCATGGGGAATATATATGTTTTGTTTCTTAGGGAAAACAGTCTGAGAAATGAATAAAAAGCATGAAGTACGTGTGTGTGTGTGTGTGTGTGTTACCATGGAAAAGGATATTCACAGTAGTACAGTTCTCAATATTTTTAATTAGATGTCATATTTTTTTAATATAGTAAAACCTTGGGATATAGAATATTACATCTTTTGAGAATGTATGTGTCTCTAAGTAAGTAAAATCTAATGCGTATAGGAGACTGATAGCTAAAAATGAATGGAACATTAATGTACTTTTATAATTAAACCTCTTATCTATCAGAAATTGTAAGAGAATAGATACATGTTTTGAATGTAAAGTTGAAAAGTCTGGTTTACTGAATAAATTGAAAGTGATTTATAAAATCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA</NUCLEOTIDE_ORIGINAL> </SEQUENCE> <PREDICTED-ORF> <CODING-POTENTIAL>Protein coding</CODING-POTENTIAL> <CDS_SOURCE_START>1</CDS_SOURCE_START> <CDS_SOURCE_END>3680</CDS_SOURCE_END> <CDS_START>312</CDS_START> <CDS_END>1391</CDS_END> <LENGTH-OF-CDS>359</LENGTH-OF-CDS> <ORIENTATION>forward</ORIENTATION> <FRAME>+3</FRAME> <FEATURE>Complete CDS</FEATURE> <CAI>0.707</CAI> </PREDICTED-ORF> <FUNCTION> <DEFINITION> <DATA-SOURCE_DB-REFERENCE_PROTEIN-MOTIF-ID>Q92187</DATA-SOURCE_DB-REFERENCE_PROTEIN-MOTIF-ID> <DATA-SOURCE_IDENTITY>100.0</DATA-SOURCE_IDENTITY> <DATA-SOURCE_COVERAGE>100.0</DATA-SOURCE_COVERAGE> <DATA-SOURCE_HOMOLOGOUS_SPECIES>Homo sapiens (Human).</DATA-SOURCE_HOMOLOGOUS_SPECIES> <DATA-SOURCE_CURATION-STATUS>Human curated</DATA-SOURCE_CURATION-STATUS> <DATA-SOURCE_DEFINITION>CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase; EC=2.4.99.-; Alpha-2,8-sialyltransferase 8D; Polysialyltransferase-1; Sialyltransferase 8D; SIAT8-D; Sialyltransferase St8Sia IV; ST8SiaIV;</DATA-SOURCE_DEFINITION> <DATA-SOURCE_SIMILARITY-CATEGORY>Identical to known human protein(Category I).</DATA-SOURCE_SIMILARITY-CATEGORY> <EXP-EVIDENCE>Protein evidence</EXP-EVIDENCE> <EXP-CODE>1</EXP-CODE> <GENENAME-SYMBOL_DDBJ-EMBL-GenBank>ST8SIA4</GENENAME-SYMBOL_DDBJ-EMBL-GenBank> <GENENAME-SYMBOL_PROTEIN_SWISS-PROT>ST8SIA4</GENENAME-SYMBOL_PROTEIN_SWISS-PROT> <HGNC> <HUGO-APPROVED-GENE-SYMBOL_GENEW>ST8SIA4</HUGO-APPROVED-GENE-SYMBOL_GENEW> <ALIASE-NAME_GENEW>"sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"</ALIASE-NAME_GENEW> <APPROVED-NAME_GENEW>ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4</APPROVED-NAME_GENEW> </HGNC> <EC> <EC-NO_DB-REFERENCE_H-INV>EC 2.4.99.-</EC-NO_DB-REFERENCE_H-INV> <EC-NAME_DB-REFERENCE_H-INV>Transferring Other Glycosyl Groups</EC-NAME_DB-REFERENCE_H-INV> </EC> </DEFINITION> <GENE-ONTOLOGY> <DOMAIN_DB-REFERENCE_INTERPRO>IPR001675</DOMAIN_DB-REFERENCE_INTERPRO> <DOMAIN_NAME>Glycosyl transferase, family 29</DOMAIN_NAME> <DOMAIN_TYPE>Family</DOMAIN_TYPE> <DOMAIN> <DOMAIN_MOTIF_START>585</DOMAIN_MOTIF_START> <DOMAIN_MOTIF_END>1376</DOMAIN_MOTIF_END> <DOMAIN_MOTIF> <GO_ORGANIZING-PRINCIPLE>Biological process</GO_ORGANIZING-PRINCIPLE> <GO_DB-REFERENCE_GO>0006486</GO_DB-REFERENCE_GO> <GO_TERM>protein amino acid glycosylation</GO_TERM> </DOMAIN_MOTIF> <DOMAIN_MOTIF> <GO_ORGANIZING-PRINCIPLE>Molecular function</GO_ORGANIZING-PRINCIPLE> <GO_DB-REFERENCE_GO>0008373</GO_DB-REFERENCE_GO> <GO_TERM>sialyltransferase activity</GO_TERM> </DOMAIN_MOTIF> </DOMAIN> </GENE-ONTOLOGY> <CELLULAR-LOCATION> <CELLULAR-LOCATION_DATE-LAST-UPDATE>27-May-2015</CELLULAR-LOCATION_DATE-LAST-UPDATE> <CELLULAR-LOCATION_DATE-LAST-MODIFIED>27-May-2015</CELLULAR-LOCATION_DATE-LAST-MODIFIED> <CELLULAR-LOCATION_SUBCELLULAR-RELEASE>9.0</CELLULAR-LOCATION_SUBCELLULAR-RELEASE> <LOCATION_WPSORT>mitochondria</LOCATION_WPSORT> <LOCATION_WPSORT>cytosol</LOCATION_WPSORT> <LOCATION_WPSORT>nuclear</LOCATION_WPSORT> <LOCATION_WPSORT>Other</LOCATION_WPSORT> <TARGET-P>signal peptide</TARGET-P> <SOSUI>soluble protein</SOSUI> <TMHMM>soluble protein</TMHMM> <PTS1> <CSEQ>LRSELLGCTEEE</CSEQ> <SCORE>-61.052</SCORE> <LOCATION>Not targeted</LOCATION> </PTS1> </CELLULAR-LOCATION> </FUNCTION> <SEQUENCE_TRANSLATION>MRSIRKRWTICTISLLLIFYKTKEIARTEEHQETQLIGDGELSLSRSLVNSSDKIIRKAGSSIFQHNVEGWKINSSLVLEIRKNILRFLDAERDVSVVKSSFKPGDVIHYVLDRRRTLNISHDLHSLLPEVSPMKNRRFKTCAVVGNSGILLDSECGKEIDSHNFVIRCNLAPVVEFAADVGTKSDFITMNPSVVQRAFGGFRNESDREKFVHRLSMLNDSVLWIPAFMVKGGEKHVEWVNALILKNKLKVRTAYPSLRLIHAVRGYWLTNKVPIKRPSTGLLMYTLATRFCDEIHLYGFWPFPKDLNGKAVKYHYYDDLKYRYFSNASPHRMPLEFKTLNVLHNRGALKLTTGKCVKQ*</SEQUENCE_TRANSLATION> <EXPRESSION> <EXPRESSION_DATE-LAST-UPDATE>27-May-2015</EXPRESSION_DATE-LAST-UPDATE> <EXPRESSION_DATE-LAST-MODIFIED>27-May-2015</EXPRESSION_DATE-LAST-MODIFIED> <PROBE-MAPPING> <PLATFORM> <PLATFORM-TYPE>AceGene</PLATFORM-TYPE> <PROBE> <PROBE-TYPE>AceGene</PROBE-TYPE> <PROBE-ID>AGhsA020716</PROBE-ID> </PROBE> </PLATFORM> <PLATFORM> <PLATFORM-TYPE>Affymetrix GeneChip</PLATFORM-TYPE> <PROBE> <PROBE-TYPE>HG-Focus</PROBE-TYPE> <PROBE-ID>206925_at</PROBE-ID> </PROBE> <PROBE> <PROBE-TYPE>HG-U133</PROBE-TYPE> <PROBE-ID>206925_at</PROBE-ID> <PROBE-ID>230261_at</PROBE-ID> <PROBE-ID>242943_at</PROBE-ID> </PROBE> <PROBE> <PROBE-TYPE>HG-U133A</PROBE-TYPE> <PROBE-ID>206925_at</PROBE-ID> </PROBE> <PROBE> <PROBE-TYPE>HG-U133A_2</PROBE-TYPE> <PROBE-ID>206925_at</PROBE-ID> </PROBE> <PROBE> <PROBE-TYPE>HG-U133B</PROBE-TYPE> <PROBE-ID>230261_at</PROBE-ID> <PROBE-ID>242943_at</PROBE-ID> </PROBE> <PROBE> <PROBE-TYPE>HG-U133_Plus_2</PROBE-TYPE> <PROBE-ID>206925_at</PROBE-ID> <PROBE-ID>230261_at</PROBE-ID> <PROBE-ID>242943_at</PROBE-ID> </PROBE> <PROBE> <PROBE-TYPE>HG-U95</PROBE-TYPE> <PROBE-ID>33649_at</PROBE-ID> <PROBE-ID>46175_i_at</PROBE-ID> <PROBE-ID>46176_r_at</PROBE-ID> <PROBE-ID>80847_at</PROBE-ID> </PROBE> <PROBE> <PROBE-TYPE>HG-U95A</PROBE-TYPE> <PROBE-ID>33649_at</PROBE-ID> </PROBE> <PROBE> <PROBE-TYPE>HG-U95B</PROBE-TYPE> <PROBE-ID>46175_i_at</PROBE-ID> <PROBE-ID>46176_r_at</PROBE-ID> </PROBE> <PROBE> <PROBE-TYPE>HG-U95D</PROBE-TYPE> <PROBE-ID>80847_at</PROBE-ID> </PROBE> <PROBE> <PROBE-TYPE>HG_U95Av2</PROBE-TYPE> <PROBE-ID>33649_at</PROBE-ID> </PROBE> <PROBE> <PROBE-TYPE>HuEx-1_0</PROBE-TYPE> <PROBE-ID>2822022</PROBE-ID> <PROBE-ID>2868912</PROBE-ID> <PROBE-ID>2868913</PROBE-ID> <PROBE-ID>2868914</PROBE-ID> <PROBE-ID>2868915</PROBE-ID> <PROBE-ID>2868916</PROBE-ID> <PROBE-ID>2868917</PROBE-ID> <PROBE-ID>2868918</PROBE-ID> <PROBE-ID>2868938</PROBE-ID> <PROBE-ID>2868939</PROBE-ID> <PROBE-ID>2868940</PROBE-ID> <PROBE-ID>2868944</PROBE-ID> <PROBE-ID>2868946</PROBE-ID> <PROBE-ID>2868951</PROBE-ID> <PROBE-ID>2868952</PROBE-ID> <PROBE-ID>2868953</PROBE-ID> <PROBE-ID>2868954</PROBE-ID> <PROBE-ID>2868955</PROBE-ID> </PROBE> <PROBE> <PROBE-TYPE>HuGeneFL</PROBE-TYPE> <PROBE-ID>L41680_at</PROBE-ID> </PROBE> </PLATFORM> <PLATFORM> <PLATFORM-TYPE>Agilent probe set</PLATFORM-TYPE> <PROBE> <PROBE-TYPE>Human 1A Oligo Microarray:PGID215</PROBE-TYPE> <PROBE-ID>A_23_P41693</PROBE-ID> </PROBE> <PROBE> <PROBE-TYPE>Whole Human Genome Oligo Microarray:PGID247</PROBE-TYPE> <PROBE-ID>A_23_P361984</PROBE-ID> </PROBE> </PLATFORM> </PROBE-MAPPING> </EXPRESSION> </cDNAXML> </H-Inv>