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H-Invitational ID: HIT000032787 Accession number: BC006365 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Presenilin-2; PS-2; EC=3.4.23.-; AD3LP; AD5; E5-1; STM-2; Contains: Presenilin-2 NTF subunit; Contains: Presenilin-2 CTF subunit;
 
 

Transcript original information
Accession number BC006365.2
CAGE tag ID NA
EST ID NA
Clone Number MGC:12801 IMAGE:4131408
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (PSEN2) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (PSEN2);
Sequence data provider Provider:MGC/NCI; 
Annotation project H-Invitational FLcDNA
Length of cDNA 2508[bp] (No. of exon:13)[A:562 T:582 G:705 C:659]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type Muscle, rhabdomyosarcoma
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature Complete CDS
Kozak sequence NA
PolyA Site: 2486(+) Signal: 2463-2467(+)
Vector/adapter sequence NA
Frame shift NA
Remaining intron NA
Splice site acceptor (NAGNAG) CAGAAG; 
Transcript quality feature Truncation; 
Notes NA

Gene structure information  G-integra H-DBAS cDNA-genome alignment
H-Inv cluster ID HIX0001647
Genomic location  G-integra Help Chromosome 1
Location 1q42.13
Position 227058969- 227083798
Strand +
Possible duplicated location(s) NA
Gene structure 13 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:5664; 
KEGG GENES KEGG GENES(5664); 
GeneCard GeneCardPSEN2;  *GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links H-DBASH-DBAS;  G-integraG-integra;  cDNA-genome alignmentcDNA-genome alignment; 

Predicted CDS information
HIP ID HIP000070941
Predicted CDS 523..1968;  481[aa];  Orientation:+1; 
Codon Adaptation Index (CAI). 0.809

Motif information
ORF

length(481),orf(523:1968) MLAGTVRFARHCLKFFPAQKPACVDFGASRGRAMLTFMASDSEEEVCDER TSLMSAESPTPRSCQEGRQGPEDGENTAQWRSQENEEDGEEDPDRYVCSG VPGRPPGLEEELTLKYGAKHVIMLFVPVTLCMIVVVATIKSVRFYTEKNG QLIYTPFTEDTPSVGQRLLNSVLNTLIMISVIVVMTIFLVVLYKYRCYKF IHGWLIMSSLMLLFLFTYIYLGEVLKTYNVAMDYPTLLLTVWNFGAVGMV CIHWKGPLVLQQAYLIMISALMALVFIKYLPEWSAWVILGAISVYDLVAV LCPKGPLRMLVETAQERNEPIFPALIYSSAMVWTVGMAKLDPSSQGALQL PYDPEMEEDSYDSFGEPSYPEVFEPPLTGYPGEELEEEEERGVKLGLGDF IFYSVLVGKAAATGSGDWNTTLACFVAILIGLCLTLLLLAVFKKALPALP ISITFGLIFYFSTDNLVRPFMDTLASHQLYI* 		a.a.
length		 InterPro Name
length(23), motif(37:59) 23 IPR001493 Peptidase A22A, presenilin 2 [Family]
length(441), motif(41:481) 441 IPR001108 Peptidase A22A, presenilin [Family]
length(12), motif(70:81) 12 IPR001493 Peptidase A22A, presenilin 2 [Family]
length(231), motif(109:339) 231 IPR001108 Peptidase A22A, presenilin [Family]
length(11), motif(125:135) 11 IPR001108 Peptidase A22A, presenilin [Family]
length(299), motif(169:467) 299 IPR006639 Presenilin/signal peptide peptidase [Family]
length(8), motif(279:286) 8 IPR001108 Peptidase A22A, presenilin [Family]
length(18), motif(296:313) 18 IPR001108 Peptidase A22A, presenilin [Family]
length(8), motif(322:329) 8 IPR001108 Peptidase A22A, presenilin [Family]
length(19), motif(339:357) 19 IPR001493 Peptidase A22A, presenilin 2 [Family]
length(17), motif(360:376) 17 IPR001493 Peptidase A22A, presenilin 2 [Family]
length(91), motif(382:472) 91 IPR001108 Peptidase A22A, presenilin [Family]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000032787
H-Inv cluster ID Locus viewHIX0001647
Accession number BC006365.2
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO; 
Coding potential  Help Protein coding; 
Definition Presenilin-2; PS-2; EC=3.4.23.-; AD3LP; AD5; E5-1; STM-2; Contains: Presenilin-2 NTF subunit; Contains: Presenilin-2 CTF subunit;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (P49810)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 7638622;  7651536;  8574969;  8618867;  8661049;  9384602;  9437013;  9521418;  10497236;  10631141;  10652302;  10732806;  11799129;  14702039;  15385547;  15489334;  16710414;  17186461;  18669648;  20068231;  ALL; 
Gene family/group Gene family H-Inv gene family/group ID NA
Gene family/group name NA
Evidence motif (InterPro) ID NA
Gene symbol/name HGNC symbol PSEN2
HGNC aliases "Alzheimer disease 4"
HGNC name presenilin 2
DDBJ PSEN2
UniProt PSEN2
EC number EC 3.4.23.-Aspartic endopeptidases; 
GGDB
(GlycoGene Database)
 Gene symbol NA
Familly NA
Designation NA
Expression NA
KEGG metabolic pathway NA
Protein-protein interaction (PPI) PPI viewer H-Inv protein ID HIP000070941
No. of interaction NA
Interaction partner(s) NA
BIND NA
DIP NA
MINT NA
HPRD NA
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:5664; 
KEGG GENES KEGG GENES(5664); 
GeneCard GeneCardPSEN2;  *GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases; 
Curation status Auto-annotated
Notes NA
Related H-InvDB links Gene familyGene family;  Similarity Search ToolSimilarity Search Tool;  TACTTACT; 
fRNAdb (The functional RNA database) : overlapping fRNAdb entries with H-InvDB transcripts based on the location of the genome. 
NA

Gene ontology information
Molecular function aspartic-type endopeptidase activity (GO:0004190); 
Cellular component integral to membrane (GO:0016021);  membrane (GO:0016020); 

Subcellular localization information  Last modified:27-May-2015
WoLF PSORT plasma membrane; 
Target P mitochondria
SOSUI membrane protein
TMHMM membrane protein
PTS1 Not targeted
Related H-InvDB links LIFEdb LIFEdb; 
JRE-1.4.0 or later is required. Download JRE at Sun's web site.

Gene expression information  H-ANGEL DNAProbeLocator Last modified:27-May-2015
Tissue-specific expression  H-ANGEL NA
Probe
information DNAProbeLocator		 AceGene AGhsA010910; 
Affymetrix
GeneChip		 HG-Focus 204261_s_at; 
HG-U133 204261_s_at;  204262_s_at;  211373_s_at; 
HG-U133A 204261_s_at;  204262_s_at;  211373_s_at; 
HG-U133A_2 204261_s_at;  204262_s_at;  211373_s_at; 
HG-U133B NA
HG-U133_Plus_2 204261_s_at;  204262_s_at;  211373_s_at; 
HG-U95 41349_at; 
HG-U95A 41349_at; 
HG-U95B NA
HG-U95C NA
HG-U95D NA
HG-U95E NA
HG-U95Av2 NA
HuEx-1_0 2383324;  2383326;  2383327;  2383330;  2383332;  2383333;  2383334;  2383335;  2383336;  2383338;  2383339;  2383341;  2383342;  2383343;  2383344;  2383345;  2383346;  2459030; 
HuGeneFL L43964_at; 
Agilent Human 1A Oligo Microarray:PGID215 A_23_P103398; 
Whole Human Genome Oligo Microarray:PGID247 A_23_P103398;  A_23_P96985;  A_24_P62521; 
Related H-InvDB links H-ANGELH-ANGEL;  DNAProbeLocatorDNAProbeLocator; 

Disease/pathology information  DiseaseInfo Viewer LEGENDA Last modified:27-May-2015
Disease relation Disease name: Alzheimer disease-4 (606889); 
Related information in OMIM OMIM ID:  600759;  Title: PRESENILIN 2
Co-localized orphan diseases NA
Disease related mutation MutationView:  600759; 
JRE-1.4.0 or later is required.Download JRE at Sun's web site.
Literature-Extracted GENe-Disease Associations (LEGENDA) LEGENDA Gene name Entrez Gene ID:(5664)
Disease Entrez Gene ID:(5664)
Substance Entrez Gene ID:(5664)
Related H-InvDB links DiseaseInfo ViewerDiseaseInfo Viewer;  LEGENDALEGENDA; 

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information  VaryGene Repeat mask viewer
 Single Nucleotide Polymorphism (SNP) and indel  VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
6 .. 6 A/G rs6665033 + 5'UTR
9 .. 9 G/A/T rs201106517 + 5'UTR
12 .. 12 G/A rs202060347 + 5'UTR
40 .. 40 T/A rs200232829 + 5'UTR
43 .. 43 A/G rs201559176 + 5'UTR
46 .. 46 A/G rs199762553 + 5'UTR
47 .. 47 A/C rs191052430 + 5'UTR
48 .. 48 C/T rs201515227 + 5'UTR
66 .. 66 C/T rs199532840 + 5'UTR
69 .. 69 C/T rs1295645 + 5'UTR
93 .. 93 A/G rs201552337 + 5'UTR
97 .. 97 G/A rs199696668 + 5'UTR
102 .. 102 C/T rs145582210 + 5'UTR
124 .. 124 C/T rs201316014 + 5'UTR
132 .. 132 G/T rs200165480 + 5'UTR
138 .. 138 C/T rs200954447 + 5'UTR
160 .. 160 C/T rs149590162 + 5'UTR
180 .. 180 G/A rs200591275 + 5'UTR
195 .. 195 T/C rs201494032 + 5'UTR
205 .. 205 C/T rs199632838 + 5'UTR
206 .. 206 G/A rs200305467 + 5'UTR
212 .. 212 A/G rs201300501 + 5'UTR
221 .. 221 G/A rs112062360 + 5'UTR
223 .. 223 T/C rs199803697 + 5'UTR
262 .. 262 T/C rs200607063 + 5'UTR
287 .. 287 C/T rs201111506 + 5'UTR
301 .. 301 C/T rs7961 + 5'UTR
306 .. 306 C/T rs200982557 + 5'UTR
307 .. 307 G/A rs201820913 + 5'UTR
323 .. 323 G/T rs200034334 + 5'UTR
333 .. 333 C/G rs202107545 + 5'UTR
335 .. 335 C/T rs183725807 + 5'UTR
348 ^ 349 -/CTCTGGACAGCGATCACTCAGC rs71898714 + 5'UTR
358 .. 358 C/T rs200284833 + 5'UTR
359 .. 359 G/A rs201092952 + 5'UTR
376 ^ 377 -/ACAG rs67600172 + 5'UTR
380 .. 380 C/A/T rs201672346 + 5'UTR
381 .. 381 G/A/T rs142421813 + 5'UTR
394 .. 394 C/T rs201497323 + 5'UTR
415 .. 415 A/G rs199636705 + 5'UTR
424 .. 424 A/C rs200656386 + 5'UTR
428 .. 428 C/T rs201390077 + 5'UTR
434 ^ 435 -/CTCAGCCTCTGGACAGCGATCA rs147693123 + 5'UTR
447 .. 447 C/G rs199732302 + 5'UTR
448 .. 448 A/G rs200716541 + 5'UTR
450 .. 450 C/T rs201715744 + 5'UTR
457 .. 457 T/G rs199881162 + 5'UTR
459 .. 459 A/G rs200819815 + 5'UTR
469 .. 469 C/G rs201827429 + 5'UTR
472 .. 472 C/T rs200044432 + 5'UTR
476 .. 476 C/A rs6673248 + 5'UTR
485 .. 485 T/G rs202112948 + 5'UTR
489 ^ 490 -/GACAGCGATAACTCAGCCTCTG rs67962302 + 5'UTR
498 .. 498 A/C rs200137699 + 5'UTR
505 .. 505 C/T rs200922381 + 5'UTR
506 .. 506 C/T rs201788938 + 5'UTR
511 .. 511 T/G rs200228068 + 5'UTR
515 .. 515 C/T rs201378322 + 5'UTR
516 .. 516 G/A rs202111966 + 5'UTR
548 .. 548 C/T rs200459699 + CDS Nonsynonymous[Ala9Val]
554 .. 554 A/G rs201403983 + CDS Nonsynonymous[His11Arg]
565 .. 565 T/A rs45500296 + CDS Nonsynonymous[Phe15Ile]
572 .. 572 C/T rs199538648 + CDS Nonsynonymous[Pro17Leu]
574 .. 574 G/T rs111567390 + CDS Nonsynonymous[Ala18Ser]
625 .. 625 C/G rs199739625 + CDS Nonsynonymous[Leu35Val]
647 .. 647 G/A rs200878942 + CDS Nonsynonymous[Ser42Asn]
648 .. 648 C/T rs201692678 + CDS Synonymous[Ser42Ser]
670 .. 670 C/T rs199644116 + CDS Nonsynonymous[Arg50Trp]
674 .. 674 C/T rs143061887 + CDS Nonsynonymous[Thr51Met]
675 .. 675 G/A rs201018913 + CDS Synonymous[Thr51Thr]
690 .. 690 C/T rs11405 + CDS Synonymous[Ala56Ala]
700 .. 700 A/G rs147326133 + CDS Nonsynonymous[Thr60Ala]
701 .. 701 C/T rs149354305 + CDS Nonsynonymous[Thr60Met]
702 .. 702 G/A rs144696679 + CDS Synonymous[Thr60Thr]
706 .. 706 C/T rs142892469 + CDS Nonsynonymous[Arg62Cys]
710 .. 710 C/T rs200037771 + CDS Nonsynonymous[Ser63Phe]
721 .. 721 G/A rs200636353 + CDS Nonsynonymous[Gly67Ser]
732 .. 732 C/T rs139309459 + CDS Synonymous[Gly70Gly]
750 .. 750 T/C rs6759 + CDS Synonymous[Asn76Asn]
751 .. 751 A/G rs200535276 + CDS Nonsynonymous[Thr77Ala]
753 .. 753 T/A rs143227762 + CDS Synonymous[Thr77Thr]
770 .. 770 A/G rs143501870 + CDS Nonsynonymous[Gln83Arg]
783 .. 783 G/C rs146894466 + CDS Nonsynonymous[Glu87Asp]
786 .. 786 C/T rs139332886 + CDS Synonymous[Asp88Asp]
787 .. 787 G/A rs188598190 + CDS Nonsynonymous[Gly89Ser]
804 .. 804 C/T rs201261403 + CDS Synonymous[Asp94Asp]
805 .. 805 C/T rs150400387 + CDS Nonsynonymous[Arg95Cys]
806 .. 806 G/A rs58973334 + CDS Nonsynonymous[Arg95His]
813 .. 813 C/T rs201272715 + CDS Synonymous[Val97Val]
826 .. 826 C/G/T rs202133351 + CDS
827 .. 827 C/G rs199968912 + CDS Nonsynonymous[Pro102Arg]
828 .. 828 C/T rs142546082 + CDS Synonymous[Pro102Pro]
829 .. 829 G/A rs139972151 + CDS Nonsynonymous[Gly103Arg]
832 .. 832 C/T rs140501902 + CDS Nonsynonymous[Arg104Trp]
875 .. 875 C/T rs63750048 + CDS Nonsynonymous[Ala118Val]
882 .. 882 T/C rs1046240 + CDS Synonymous[His120His]
900 .. 900 G/C rs200350640 + CDS Synonymous[Val126Val]
915 .. 915 C/T rs146718524 + CDS Synonymous[Cys131Cys]
921 .. 921 C/T rs200801915 + CDS Synonymous[Ile133Ile]
949 .. 949 C/T rs199808788 + CDS Nonsynonymous[Arg143Cys]
957 .. 957 C/T rs200610057 + CDS Synonymous[Tyr145Tyr]
969 .. 969 T/C rs201119121 + CDS Synonymous[Asn149Asn]
985 .. 985 A/C rs63749851 + CDS Nonsynonymous[Thr155Pro]
986 .. 986 C/G rs28936380 + CDS Nonsynonymous[Thr155Arg]
987 .. 987 G/A rs148996705 + CDS Synonymous[Thr155Thr]
1010 .. 1010 C/T rs63750197 + CDS Nonsynonymous[Ser163Leu]
1032 .. 1032 C/T rs200924879 + CDS Synonymous[Asn170Asn]
1036 .. 1036 G/A rs202178897 + CDS Nonsynonymous[Val172Met]
1042 .. 1042 A/T rs61761208 + CDS Nonsynonymous[Asn174Tyr]
1043 .. 1043 A/T rs63750215 + CDS Nonsynonymous[Asn174Ile]
1044 .. 1044 C/T rs116003409 + CDS Synonymous[Asn174Asn]
1045 .. 1045 A/T rs201590095 + CDS Nonsynonymous[Thr175Ser]
1050 .. 1050 C/T rs201196514 + CDS Synonymous[Leu176Leu]
1060 .. 1060 A/G rs201892898 + CDS Nonsynonymous[Ser180Gly]
1062 .. 1062 C/T rs114334281 + CDS Synonymous[Ser180Ser]
1063 .. 1063 G/A rs63750812 + CDS Nonsynonymous[Val181Ile]
1076 .. 1076 T/C rs199654606 + CDS Nonsynonymous[Met185Thr]
1081 .. 1081 A/G rs139573101 + CDS Nonsynonymous[Ile187Val]
1108 .. 1108 C/A rs200931244 + CDS Nonsynonymous[Arg196Ser]
1141 .. 1141 A/G rs61757781 + CDS Nonsynonymous[Met207Val]
1158 .. 1158 G/A rs201896763 + CDS Synonymous[Leu212Leu]
1172 .. 1172 C/T rs200210453 + CDS Nonsynonymous[Thr217Ile]
1191 .. 1191 A/C rs202176021 + CDS Nonsynonymous[Glu223Asp]
1205 .. 1205 A/G rs200410369 + CDS Nonsynonymous[Tyr228Cys]
1209 .. 1209 T/C rs144629723 + CDS Synonymous[Asn229Asn]
1252 .. 1252 T/G rs201671829 + CDS Nonsynonymous[Phe244Val]
1254 .. 1254 C/T rs199760083 + CDS Synonymous[Phe244Phe]
1255 .. 1255 G/A rs200173519 + CDS Nonsynonymous[Gly245Arg]
1263 .. 1263 G/T rs190477948 + CDS Synonymous[Val247Val]
1304 .. 1304 A/T rs63750880 + CDS Nonsynonymous[Gln261Leu]
1311 .. 1311 C/G rs145010538 + CDS Synonymous[Ala263Ala]
1313 .. 1313 A/G rs200754713 + CDS Nonsynonymous[Tyr264Cys]
1318 .. 1318 A/G rs201908554 + CDS Nonsynonymous[Ile266Val]
1329 .. 1329 T/C rs61730652 + CDS Synonymous[Ser269Ser]
1331 .. 1331 C/T rs200670135 + CDS Nonsynonymous[Ala270Val]
1332 .. 1332 G/A rs202003390 + CDS Synonymous[Ala270Ala]
1336 .. 1336 A/G rs28936379 + CDS Nonsynonymous[Met272Val]
1338 .. 1338 G/A rs63749884 + CDS Nonsynonymous[Met272Ile]
1346 .. 1346 T/C rs200133314 + CDS Nonsynonymous[Val275Ala]
1360 .. 1360 C/T rs140562931 + CDS Nonsynonymous[Leu280Phe]
1365 .. 1365 A/G rs145400391 + CDS Synonymous[Pro281Pro]
1374 .. 1374 C/T rs200332829 + CDS Synonymous[Ser284Ser]
1375 .. 1375 G/A rs138836272 + CDS Nonsynonymous[Ala285Thr]
1376 .. 1376 C/T rs201403206 + CDS Nonsynonymous[Ala285Val]
1377 .. 1377 G/C rs147702142 + CDS Synonymous[Ala285Ala]
1384 .. 1384 A/T rs201292728 + CDS Nonsynonymous[Ile288Phe]
1392 .. 1392 C/T rs7539017 + CDS Synonymous[Gly290Gly]
1393 .. 1393 G/A/T rs148238688 + CDS
1402 .. 1402 G/C rs201055590 + CDS Nonsynonymous[Val294Leu]
1404 .. 1404 G/A rs202210060 + CDS Synonymous[Val294Val]
1411 .. 1411 C/T rs200694973 + CDS Nonsynonymous[Leu297Phe]
1413 .. 1413 C/G rs77875620 + CDS Synonymous[Leu297Leu]
1414 .. 1414 G/A rs199707432 + CDS Nonsynonymous[Val298Met]
1419 .. 1419 T/C rs200644982 + CDS Synonymous[Ala299Ala]
1421 .. 1421 T/G rs77421307 + CDS Nonsynonymous[Val300Gly]
1425 .. 1425 G/C rs201606093 + CDS Synonymous[Leu301Leu]
1475 .. 1475 A/G rs150780392 + CDS Nonsynonymous[Asn318Ser]
1482 .. 1482 C/T rs75733498 + CDS Synonymous[Pro320Pro]
1498 .. 1498 A/T rs199689738 + CDS Nonsynonymous[Ile326Leu]
1505 .. 1505 C/T rs200668817 + CDS Nonsynonymous[Ser328Leu]
1523 .. 1523 C/T rs144277432 + CDS Nonsynonymous[Thr334Met]
1524 .. 1524 G/A/T rs6426553 + CDS
1535 .. 1535 C/T rs200501733 + CDS Nonsynonymous[Ala338Val]
1536 .. 1536 G/A rs75357954 + CDS Synonymous[Ala338Ala]
1548 .. 1548 C/T rs200326485 + CDS Synonymous[Pro342Pro]
1568 .. 1568 A/G rs201778576 + CDS Nonsynonymous[Gln349Arg]
1575 .. 1575 C/T rs199587016 + CDS Synonymous[Pro351Pro]
1579 .. 1579 G/A rs141094783 + CDS Nonsynonymous[Asp353Asn]
1614 .. 1614 T/C/G rs200044441 + CDS
1622 .. 1622 C/G rs63750207 + CDS Nonsynonymous[Pro367Arg]
1636 .. 1636 G/A rs201917728 + CDS Nonsynonymous[Val372Ile]
1644 .. 1644 G/A rs199881176 + CDS Synonymous[Glu374Glu]
1670 .. 1670 A/G rs78420366 + CDS Nonsynonymous[Glu383Gly]
1689 .. 1689 G/A rs200977587 + CDS Synonymous[Glu389Glu]
1713 .. 1713 C/T rs201093218 + CDS Synonymous[Leu397Leu]
1751 .. 1751 C/T rs199714082 + CDS Nonsynonymous[Ala410Val]
1760 .. 1760 C/A rs143912759 + CDS Nonsynonymous[Thr413Lys]
1769 .. 1769 G/A rs145671982 + CDS Nonsynonymous[Gly416Glu]
1770 .. 1770 G/C rs201772526 + CDS Synonymous[Gly416Gly]
1773 .. 1773 C/G rs199550349 + CDS Nonsynonymous[Asp417Glu]
1777 .. 1777 A/C rs149172004 + CDS Nonsynonymous[Asn419His]
1784 .. 1784 C/T rs143549266 + CDS Nonsynonymous[Thr421Met]
1797 .. 1797 C/T rs115652716 + CDS Synonymous[Phe425Phe]
1798 .. 1798 G/A rs142690225 + CDS Nonsynonymous[Val426Met]
1821 .. 1821 T/C rs138494303 + CDS Synonymous[Cys433Cys]
1857 .. 1857 G/A rs201982084 + CDS Synonymous[Ala445Ala]
1861 .. 1861 C/T rs200427880 + CDS Nonsynonymous[Pro447Ser]
1864 .. 1864 G/A rs201494033 + CDS Nonsynonymous[Ala448Thr]
1873 .. 1873 A/G rs199796978 + CDS Nonsynonymous[Ile451Val]
1887 .. 1887 C/T rs200169735 + CDS Synonymous[Phe455Phe]
1905 .. 1905 C/T rs144318314 + CDS Synonymous[Phe461Phe]
1910 .. 1910 C/T rs63750666 + CDS Nonsynonymous[Thr463Met]
1915 .. 1915 A/C rs199676786 + CDS Nonsynonymous[Asn465His]
1924 .. 1924 C/T rs142772982 + CDS Nonsynonymous[Arg468Trp]
1925 .. 1925 G/A rs201922151 + CDS Nonsynonymous[Arg468Gln]
1929 .. 1929 G/A rs199547508 + CDS Synonymous[Pro469Pro]
1933 .. 1933 A/G rs200804459 + CDS Nonsynonymous[Met471Val]
1937 .. 1937 A/C rs63750110 + CDS Nonsynonymous[Asp472Ala]
1938 .. 1938 C/T rs201424233 + CDS Synonymous[Asp472Asp]
1951 .. 1951 C/T rs151048692 + CDS Nonsynonymous[His477Tyr]
1971 .. 1971 G/A rs200164062 + 3'UTR
1986 .. 1986 A/G rs200745703 + 3'UTR
1988 .. 1988 G/A rs201399057 + 3'UTR
2012 .. 2012 T/C rs200016565 + 3'UTR
2049 .. 2049 A/T rs200943229 + 3'UTR
2062 .. 2062 T/C rs202239448 + 3'UTR
2088 .. 2088 G/A rs143059995 + 3'UTR
2100 .. 2100 T/C rs186288674 + 3'UTR
2110 .. 2110 G/A rs201163703 + 3'UTR
2156 .. 2156 C/T rs202067223 + 3'UTR
2158 .. 2158 C/A rs200407641 + 3'UTR
2161 .. 2161 G/A/C rs201559102 + 3'UTR
2173 .. 2173 G/A rs199571588 + 3'UTR
2178 .. 2178 G/A rs200296479 + 3'UTR
2184 .. 2184 C/T rs201488196 + 3'UTR
2185 .. 2185 G/A rs199791100 + 3'UTR
2206 .. 2206 T/C rs200615414 + 3'UTR
2238 .. 2238 T/C rs8383 + 3'UTR
2252 .. 2252 T/A rs199645229 + 3'UTR
2255 .. 2255 G/A rs200641411 + 3'UTR
2258 .. 2258 A/T rs201605500 + 3'UTR
2274 .. 2274 G/A rs145129440 + 3'UTR
2280 .. 2280 A/C rs200559114 + 3'UTR
2281 .. 2281 G/A rs201773209 + 3'UTR
2288 .. 2288 C/T rs200161165 + 3'UTR
2310 .. 2310 G/T rs200923178 + 3'UTR
2319 .. 2319 G/A rs202178096 + 3'UTR
2330 .. 2330 A/G rs199949722 + 3'UTR
2344 .. 2344 A/G rs201114015 + 3'UTR
2345 .. 2345 C/T rs202160009 + 3'UTR
2346 .. 2346 G/C rs200173939 + 3'UTR
2360 .. 2360 A/G rs201510179 + 3'UTR
2373 .. 2373 G/T rs116807339 + 3'UTR
2382 .. 2382 G/A rs200536369 + 3'UTR
2409 .. 2409 T/G rs201603449 + 3'UTR
2422 .. 2422 A/T rs199579988 + 3'UTR
2423 .. 2423 C/T rs200568747 + 3'UTR
2434 .. 2434 C/T rs191115973 + 3'UTR
2447 .. 2447 G/T rs201177570 + 3'UTR
2455 .. 2455 G/C rs7962 + 3'UTR
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
 Repeat  Repeat mask viewer
Type Start End Strand
MIR3 33 148 -
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD); 
Related H-InvDB links VaryGeneVaryGene;  Repeat mask viewerRepeat Mask Viewer;