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H-Invitational ID: HIT000000053 Accession number: AB002345 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Period circadian protein homolog 2; hPER2; Circadian clock protein PERIOD 2;
 
 

Transcript original information
Accession number AB002345.2
CAGE tag ID NA
EST ID NA
Clone Number hg015281
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (PER2) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (PER2);
Sequence data provider Provider:KDRI
Annotation project H-Invitational FLcDNA
Length of cDNA 6219[bp] (No. of exon:23)[A:1537 T:1457 G:1557 C:1668]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type brain
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature Complete CDS
Kozak sequence NA
PolyA NA
Vector/adapter sequence NA
Frame shift NA
Remaining intron NA
Splice site acceptor (NAGNAG) CAGTAG; 
Transcript quality feature NA
Notes NA

Gene structure information  G-integra H-DBAS cDNA-genome alignment
H-Inv cluster ID HIX0200246
Genomic location  G-integra Help Chromosome 2
Location 2q37.3
Position 239152686- 239197092
Strand -
Possible duplicated location(s) NA
Gene structure 23 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:8864
KEGG GENES KEGG GENES(8864)
GeneCard GeneCardPER2*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 HIP000080042
Predicted CDS 123..3890;  1255[aa];  Orientation:+3; 
Codon Adaptation Index (CAI). 0.8
Database links RefSeq NP_073728
UniProt O15055
CCDS CCDS2528

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000000053
H-Inv cluster ID Locus viewHIX0200246
Accession number AB002345.2
CAGE tag ID NA
EST ID NA
Transcript feature  Help Representative H-Inv IDRepresentative transcript;  Splicing isoformSplicing isoform
Coding potential  Help Protein coding; 
Definition Period circadian protein homolog 2; hPER2; Circadian clock protein PERIOD 2;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (O15055)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 920584194272491116524211232563147509041581562116959974ALL
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 PER2
HGNC aliases "period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"
HGNC name period circadian clock 2
DDBJ KIAA0347
UniProt PER2
EC number NA
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 HIP000080042
No. of interaction 2
Interaction partner(s) HIP000055848HIP000059148
BIND 258412; 
DIP 117471E; 
MINT NA
HPRD 02919;  02920;  03774;  04122;  04864;  07226;  09050;  09138; 
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:8864
KEGG GENES KEGG GENES(8864)
GeneCard GeneCardPER2*GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases
Curation status Human curated
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. 
FR ID FR401043
Accession DQ587824,
Description Piwi-interacting RNA (piRNA)
Location chr2,-,238849139..238849167
PMID 16751776, 15608161,


Subcellular localization information  Last modified:27-May-2015
WoLF PSORT nuclear;  cytosol; 
Target P Other
SOSUI soluble protein
TMHMM soluble 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.

Protein structure information (GTOP) GTOP Last modified:27-May-2015
Start End PDB_ID E-value Identity Coverage SCOP_ID
337 519 2btvA 2e-47 15.9 164/845 e.28.1.1
1102 1198 1mm8A 5e-04 17.5 97/100 c.55.3.4
Related H-InvDB links GTOP GTOP

Gene expression information  H-ANGEL DNAProbeLocator Last modified:27-May-2015
Tissue-specific expression  H-ANGEL NA
Probe
information DNAProbeLocator
AceGene NA
Affymetrix
GeneChip
HG-Focus 205251_at; 
HG-U133 205251_at;  208518_s_at; 
HG-U133A 205251_at;  208518_s_at; 
HG-U133A_2 205251_at;  208518_s_at; 
HG-U133B NA
HG-U133_Plus_2 205251_at;  208518_s_at; 
HG-U95 35008_at; 
HG-U95A 35008_at; 
HG-U95B NA
HG-U95C NA
HG-U95D NA
HG-U95E NA
HG-U95Av2 NA
HuEx-1_0 2534794;  2534796;  2534798;  2605750;  2605752;  2605753;  2605754;  2605755;  2605756;  2605757;  2605758;  2605759;  2605760;  2605762;  2605764;  2605765;  2605768;  2605771;  2605772;  2605774;  2605776;  2605778;  2605780;  2605781;  2605784;  2605785;  2605788;  2605789;  2605790;  2605796; 
HuGeneFL NA
Agilent Human 1A Oligo Microarray:PGID215 A_23_P209320; 
Whole Human Genome Oligo Microarray:PGID247 A_23_P209320;  A_23_P411162; 
Related H-InvDB links H-ANGELH-ANGEL DNAProbeLocatorDNAProbeLocator

Disease/pathology information  DiseaseInfo Viewer LEGENDA Last modified:27-May-2015
Disease relation Disease name: Advanced sleep phase syndrome, familial (604348); 
Related information in OMIM OMIM ID:  603426;  Title: PERIOD, DROSOPHILA, HOMOLOG OF, 2
Co-localized orphan diseases NA
Disease related mutation NA
Literature-Extracted GENe-Disease Associations (LEGENDA) LEGENDA Gene name Entrez Gene ID:(8864)
Disease Entrez Gene ID:(8864)
Substance Entrez Gene ID:(8864)
Related H-InvDB links DiseaseInfo ViewerDiseaseInfo ViewerLEGENDALEGENDA

Evolutionary information  Evola Help Last modified:27-May-2015
Relationship Species Accession number MGI Links
Orthology Rattus sp. (Rat) AB016532 G-integraG-integra
Orthology Gallus sp. (Chicken) AF246956 G-integraG-integra
Orthology Mus sp. (Mouse) AK165556 MGI:3560558 G-integraG-integra
Orthology Danio sp. (Zebrafish) ENSDART00000098004 G-integraG-integra
Orthology Monodelphis sp. (Opossum) ENSMODT00000013601 G-integraG-integra
Orthology Oryzias sp. (Medaka) ENSORLT00000019353 G-integraG-integra
Orthology Oryzias sp. (Medaka) ENSORLT00000020794 G-integraG-integra
Orthology Pongo sp. (Orangutan) ENSPPYT00000015498 G-integraG-integra
Orthology Tetraodon sp. (Tetraodon) GSTENT00013830001 G-integraG-integra
Orthology Tetraodon sp. (Tetraodon) GSTENT00026769001 G-integraG-integra
Orthology Tetraodon sp. (Tetraodon) GSTENT00028368001 G-integraG-integra
Orthology Takifugu sp. (Fugu) SINFRUT00000147284 G-integraG-integra
Orthology Macaca sp. (Macaque) XM_001086845 G-integraG-integra
Orthology Pan sp. (Chimpanzee) XM_001154675 G-integraG-integra
Orthology Equus sp. (Horse) XM_001496867 G-integraG-integra
Orthology Canis sp. (Dog) XM_543306 G-integraG-integra
Orthology Bos sp. (Cow) XM_589710 G-integraG-integra
Phylogenetic tree [View by ATV]
Neighbor-joining (phb) 
Related H-InvDB links EvolaEvoladN/dS (under constraction); 

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
96 .. 96 T/G rs115232299 - 5'UTR
111 .. 111 C/G rs2304672 + 5'UTR
127 .. 127 A/G rs184017310 - CDS Nonsynonymous[Asn2Ser]
135 .. 135 G/T rs35572922 - CDS Nonsynonymous[Ala5Ser]
137 .. 137 G/A rs189193339 - CDS Synonymous[Ala5Ala]
145 .. 145 C/T rs151226622 - CDS Nonsynonymous[Pro8Leu]
213 .. 213 G/A rs200062873 - CDS Nonsynonymous[Asp31Asn]
254 .. 254 C/T rs147150214 - CDS Synonymous[Asn44Asn]
269 .. 269 G/A rs144982607 - CDS Synonymous[Thr49Thr]
273 .. 273 C/T rs199703220 - CDS Nonsynonymous[Arg51Trp]
280 .. 280 C/T rs149407924 - CDS Nonsynonymous[Ser53Leu]
299 .. 299 C/T rs138909560 - CDS Synonymous[Asp59Asp]
337 .. 337 C/T rs142033533 - CDS Nonsynonymous[Pro72Leu]
370 .. 370 T/G rs140462253 - CDS Nonsynonymous[Leu83Arg]
383 .. 383 A/C rs143743066 - CDS Nonsynonymous[Lys87Asn]
395 .. 395 C/T rs200357804 - CDS Synonymous[Asn91Asn]
398 .. 398 A/G rs201214959 - CDS Synonymous[Pro92Pro]
419 .. 419 C/T rs149161458 - CDS Synonymous[Ser99Ser]
430 .. 430 C/T rs199741233 - CDS Nonsynonymous[Ser103Leu]
431 .. 431 G/T rs114545224 - CDS Synonymous[Ser103Ser]
453 .. 453 C/G rs147628529 - CDS Nonsynonymous[Leu111Val]
489 .. 489 C/G rs3739068 - CDS Nonsynonymous[Pro123Ala]
490 ^ 491 -/C rs35329790 - CDS
505 .. 505 C/A rs77311618 + CDS Nonsynonymous[Ala128Asp]
523 .. 523 C/T rs148637086 - CDS Nonsynonymous[Thr134Met]
524 .. 524 G/A rs34749458 - CDS Synonymous[Thr134Thr]
542 .. 542 C/T rs146385738 - CDS Synonymous[Tyr140Tyr]
554 .. 554 C/T rs138741721 - CDS Synonymous[Ser144Ser]
555 .. 555 G/A rs150895165 - CDS Nonsynonymous[Val145Met]
564 .. 564 G/A rs2340885 + CDS Nonsynonymous[Val148Met]
593 .. 593 G/A rs142139283 - CDS Synonymous[Leu157Leu]
632 .. 632 G/A rs147018891 - CDS Synonymous[Val170Val]
633 .. 633 C/T rs200383888 - CDS Nonsynonymous[Pro171Ser]
644 .. 644 C/T rs115349318 - CDS Synonymous[Thr174Thr]
654 .. 654 A/G rs199824805 - CDS Nonsynonymous[Met178Val]
662 .. 662 C/T rs139520876 - CDS Synonymous[Ser180Ser]
663 .. 663 G/A rs150945534 - CDS Nonsynonymous[Val181Ile]
673 .. 673 A/C rs146360310 - CDS Nonsynonymous[Glu184Ala]
775 .. 775 A/G rs200802848 - CDS Nonsynonymous[Lys218Arg]
783 .. 783 G/A rs79524310 - CDS Nonsynonymous[Ala221Thr]
800 .. 800 G/A rs116439936 - CDS Synonymous[Lys226Lys]
817 .. 817 C/A rs138230224 - CDS Nonsynonymous[Ala232Glu]
832 .. 832 G/A rs200865805 - CDS Nonsynonymous[Gly237Asp]
833 .. 833 C/T rs138138301 - CDS Synonymous[Gly237Gly]
841 .. 841 A/G rs141480763 - CDS Nonsynonymous[His240Arg]
857 .. 857 G/A rs143029196 - CDS Synonymous[Pro245Pro]
938 .. 938 C/T rs149025945 - CDS Synonymous[Cys272Cys]
952 .. 952 G/A rs202088925 - CDS Nonsynonymous[Arg277Gln]
981 .. 981 C/A rs144063329 - CDS Nonsynonymous[His287Asn]
986 .. 986 C/T rs199917831 - CDS Synonymous[Pro288Pro]
1011 .. 1011 A/G rs146862648 - CDS Nonsynonymous[Lys297Glu]
1017 .. 1017 C/T rs201149361 - CDS Nonsynonymous[Arg299Trp]
1018 .. 1018 G/A rs150684914 - CDS Nonsynonymous[Arg299Gln]
1049 .. 1049 C/T rs35564455 - CDS Synonymous[Cys309Cys]
1067 .. 1067 G/A rs113438735 - CDS Synonymous[Glu315Glu]
1136 .. 1136 A/G rs147407371 - CDS Synonymous[Thr338Thr]
1208 .. 1208 T/C rs138659992 - CDS Synonymous[Ile362Ile]
1223 .. 1223 C/T rs140875436 - CDS Synonymous[Leu367Leu]
1224 .. 1224 G/C rs199558711 - CDS Nonsynonymous[Val368Leu]
1236 .. 1236 C/A rs181985043 - CDS Nonsynonymous[Pro372Thr]
1289 .. 1289 C/T rs141718870 - CDS Synonymous[Gly389Gly]
1301 .. 1301 C/T rs115692307 - CDS Synonymous[Phe393Phe]
1302 .. 1302 G/A rs143818829 - CDS Nonsynonymous[Asp394Asn]
1316 .. 1316 T/C rs145331184 - CDS Synonymous[Ile398Ile]
1323 .. 1323 C/T rs77146655 + CDS Nonsynonymous[Arg401Cys]
1325 .. 1325 C/A rs144578923 - CDS Synonymous[Arg401Arg]
1330 .. 1330 G/A rs140821434 - CDS Nonsynonymous[Arg403Gln]
1333 .. 1333 A/G rs180701082 - CDS Nonsynonymous[Asn404Ser]
1394 ^ 1395 -/A rs34895723 - CDS
1409 .. 1409 T/C rs75221346 + CDS Synonymous[Ile429Ile]
1548 .. 1548 C/A rs80156481 + CDS Nonsynonymous[His476Asn]
1551 .. 1551 A/T rs202012577 - CDS Nonsynonymous[Ser477Cys]
1568 .. 1568 C/A rs200408737 - CDS AA-STOP[Tyr482*]
1589 .. 1589 G/A rs138121985 - CDS Synonymous[Gly489Gly]
1634 .. 1634 C/T rs145850151 - CDS Synonymous[Asn504Asn]
1639 .. 1639 A/G rs200288603 - CDS Nonsynonymous[His506Arg]
1674 .. 1674 A/G rs140217693 - CDS Nonsynonymous[Lys518Glu]
1777 .. 1777 A/G rs138601136 - CDS Nonsynonymous[Lys552Arg]
1807 .. 1807 G/A rs202103918 - CDS Nonsynonymous[Ser562Asn]
1816 .. 1816 T/C rs151101934 - CDS Nonsynonymous[Val565Ala]
1931 .. 1931 G/A rs200784590 - CDS Synonymous[Leu603Leu]
1944 .. 1944 G/A rs143757961 - CDS Nonsynonymous[Glu608Lys]
1951 .. 1951 C/T rs144640855 - CDS Nonsynonymous[Pro610Leu]
1958 .. 1958 C/T rs116369782 - CDS Synonymous[Asn612Asn]
2002 .. 2002 G/T rs150017484 - CDS Nonsynonymous[Ser627Ile]
2004 .. 2004 C/G rs141715748 - CDS Nonsynonymous[Pro628Ala]
2007 .. 2007 G/A rs199717477 - CDS Nonsynonymous[Gly629Arg]
2053 .. 2053 G/A rs146261525 - CDS Nonsynonymous[Arg644His]
2071 .. 2071 A/C rs201312988 - CDS Nonsynonymous[His650Pro]
2087 .. 2087 A/G rs2304669 + CDS Synonymous[Ala655Ala]
2093 .. 2093 G/A rs143025014 - CDS Synonymous[Pro657Pro]
2106 .. 2106 A/G rs121908635 + CDS Nonsynonymous[Ser662Gly]
2113 .. 2113 C/T rs70965448 + CDS Nonsynonymous[Ala664Val]
2114 .. 2114 G/A rs2304670 + CDS Synonymous[Ala664Ala]
2117 .. 2117 G/A rs2304671 + CDS Synonymous[Ser665Ser]
2121 .. 2121 A/C rs200138747 - CDS Nonsynonymous[Thr667Pro]
2150 .. 2150 C/T rs200422765 - CDS Synonymous[Ile676Ile]
2173 .. 2173 C/T rs142788927 - CDS Nonsynonymous[Pro684Leu]
2179 .. 2179 C/T rs145738398 - CDS Nonsynonymous[Pro686Leu]
2180 .. 2180 G/A rs139338215 - CDS Synonymous[Pro686Pro]
2193 .. 2193 G/C rs139966402 - CDS Nonsynonymous[Val691Leu]
2207 .. 2207 G/A rs141604367 - CDS Synonymous[Ala695Ala]
2247 .. 2247 C/G rs143480213 - CDS Nonsynonymous[Leu709Val]
2262 .. 2262 A/T rs142744063 - CDS Nonsynonymous[Ser714Cys]
2307 .. 2307 G/A rs4429421 - CDS Nonsynonymous[Val729Ile]
2312 .. 2312 C/T rs150404490 - CDS Synonymous[Leu730Leu]
2370 .. 2370 A/C rs143734972 - CDS Nonsynonymous[Lys750Gln]
2375 .. 2375 C/G rs146740628 - CDS Synonymous[Leu751Leu]
2389 .. 2389 C/T rs148693274 - CDS Nonsynonymous[Ser756Phe]
2396 .. 2396 C/T rs201048436 - CDS Synonymous[Cys758Cys]
2411 .. 2411 A/G rs144106669 - CDS Synonymous[Gln763Gln]
2431 .. 2431 C/T rs150714535 - CDS Nonsynonymous[Pro770Leu]
2440 .. 2440 G/A rs79066297 + CDS Nonsynonymous[Arg773Gln]
2468 .. 2468 C/T rs10195959 - CDS Synonymous[Ser782Ser]
2519 .. 2519 C/T rs201166411 - CDS Synonymous[Ser799Ser]
2536 .. 2536 G/A rs143835661 - CDS Nonsynonymous[Arg805Gln]
2543 .. 2543 A/C rs144985716 - CDS Synonymous[Ser807Ser]
2549 .. 2549 G/C rs200796861 - CDS Nonsynonymous[Glu809Asp]
2556 .. 2556 G/A rs201525818 - CDS Nonsynonymous[Gly812Arg]
2570 .. 2570 C/T rs146565410 - CDS Synonymous[Pro816Pro]
2576 .. 2576 C/T rs143393628 - CDS Synonymous[Ser818Ser]
2577 .. 2577 G/T rs199933426 - CDS Nonsynonymous[Ala819Ser]
2582 .. 2582 G/A rs75156302 + CDS Synonymous[Arg820Arg]
2588 .. 2588 G/A rs34409863 - CDS Synonymous[Pro822Pro]
2604 .. 2604 G/A rs55704277 - CDS Nonsynonymous[Ala828Thr]
2627 .. 2627 C/T rs147156652 - CDS Synonymous[Asp835Asp]
2629 .. 2629 C/T rs201200083 - CDS Nonsynonymous[Thr836Met]
2652 .. 2652 G/T rs138292908 - CDS Nonsynonymous[Val844Leu]
2663 .. 2663 C/T rs199663909 - CDS Synonymous[Pro847Pro]
2690 .. 2690 G/T rs200509711 - CDS Synonymous[Leu856Leu]
2694 .. 2694 G/A rs79645972 + CDS Nonsynonymous[Val858Met]
2704 .. 2704 C/T rs75724304 + CDS Nonsynonymous[Ala861Val]
2705 .. 2705 G/A rs78915190 + CDS Synonymous[Ala861Ala]
2715 .. 2715 G/A rs78793960 + CDS Nonsynonymous[Val865Met]
2724 .. 2724 C/A rs142728794 - CDS Nonsynonymous[Pro868Thr]
2726 .. 2726 C/T rs145721519 - CDS Synonymous[Pro868Pro]
2737 .. 2737 C/T rs78545306 + CDS Nonsynonymous[Pro872Leu]
2747 .. 2747 C/G rs150348861 - CDS Nonsynonymous[Ser875Arg]
2748 .. 2748 T/C rs78832829 + CDS Nonsynonymous[Phe876Leu]
2753 .. 2753 A/G rs140265208 - CDS Synonymous[Thr877Thr]
2797 .. 2797 A/G rs148428993 - CDS Nonsynonymous[Gln892Arg]
2829 .. 2829 G/A rs35333999 - CDS Nonsynonymous[Val903Ile]
2877 .. 2877 A/C rs201452338 - CDS Nonsynonymous[Asn919His]
2917 .. 2917 C/T rs199746230 - CDS Nonsynonymous[Pro932Leu]
2940 .. 2940 G/A rs200687764 - CDS Nonsynonymous[Glu940Lys]
2948 .. 2948 C/A rs200322649 - CDS Synonymous[Ala942Ala]
2968 .. 2968 T/A rs35998480 - CDS Nonsynonymous[Phe949Tyr]
2976 .. 2976 C/T rs80292232 + CDS Nonsynonymous[Arg952Trp]
2977 .. 2977 G/A rs201560338 - CDS Nonsynonymous[Arg952Gln]
2981 .. 2981 C/T rs145633419 - CDS Synonymous[Thr953Thr]
3019 .. 3019 G/A rs148312343 - CDS Nonsynonymous[Arg966Gln]
3023 .. 3023 C/T rs3739063 - CDS Synonymous[Ala967Ala]
3032 .. 3032 A/T rs75272725 + CDS Synonymous[Pro970Pro]
3039 .. 3039 A/G rs200068621 - CDS Nonsynonymous[Met973Val]
3058 .. 3058 C/T rs143554580 - CDS Nonsynonymous[Pro979Leu]
3118 .. 3118 C/T rs146238483 - CDS Nonsynonymous[Ala999Val]
3134 .. 3134 T/C rs142267174 - CDS Synonymous[Thr1004Thr]
3141 .. 3141 A/T rs201568848 - CDS Nonsynonymous[Met1007Leu]
3142 .. 3142 T/C rs150509214 - CDS Nonsynonymous[Met1007Thr]
3204 .. 3204 C/T rs116038195 - CDS Nonsynonymous[Arg1028Trp]
3218 .. 3218 G/A rs151160658 - CDS Synonymous[Pro1032Pro]
3229 .. 3229 T/C rs76234418 + CDS Nonsynonymous[Leu1036Pro]
3260 .. 3260 C/T rs146117791 - CDS Synonymous[Asn1046Asn]
3277 .. 3277 C/T rs139755830 - CDS Nonsynonymous[Thr1052Met]
3284 .. 3284 C/T rs149339333 - CDS Synonymous[Ser1054Ser]
3329 .. 3329 G/A rs149350920 - CDS Synonymous[Ser1069Ser]
3372 .. 3372 T/C rs138750527 - CDS Nonsynonymous[Cys1084Arg]
3377 .. 3377 C/T rs138871884 - CDS Synonymous[Asp1085Asp]
3378 .. 3378 G/A rs142279132 - CDS Nonsynonymous[Ala1086Thr]
3411 .. 3411 A/G rs111652500 - CDS Nonsynonymous[Ser1097Gly]
3477 .. 3477 A/C rs145814490 - CDS Nonsynonymous[Thr1119Pro]
3512 .. 3512 C/T rs191131720 - CDS Synonymous[Cys1130Cys]
3542 .. 3542 G/T rs79440143 + CDS Nonsynonymous[Met1140Ile]
3560 .. 3560 C/T rs140643763 - CDS Synonymous[Ser1146Ser]
3571 .. 3571 C/T rs148816754 - CDS Nonsynonymous[Thr1150Met]
3572 .. 3572 G/A rs140894506 - CDS Synonymous[Thr1150Thr]
3662 .. 3662 G/A rs117025694 - CDS Synonymous[Thr1180Thr]
3709 .. 3709 C/T rs75060790 + CDS Nonsynonymous[Thr1196Met]
3722 .. 3722 C/T rs35873326 - CDS Synonymous[Pro1200Pro]
3735 .. 3735 G/A rs76355956 - CDS Nonsynonymous[Val1205Met]
3801 .. 3801 A/G rs78614149 + CDS Nonsynonymous[Ile1227Val]
3808 .. 3808 C/T rs138350815 - CDS Nonsynonymous[Ser1229Phe]
3829 .. 3829 C/T rs73088906 - CDS Nonsynonymous[Ser1236Leu]
3853 .. 3853 G/A rs934945 + CDS Nonsynonymous[Gly1244Glu]
3875 .. 3875 C/T rs143025864 - CDS Synonymous[Ile1251Ile]
3962 .. 3962 A/T rs10181662 - 3'UTR
4192 .. 4192 A/T rs10181401 - 3'UTR
4231 .. 4231 G/A rs187979399 - 3'UTR
4296 .. 4296 C/G rs149923742 - 3'UTR
4320 .. 4320 G/A rs185011361 - 3'UTR
4371 ^ 4372 -/T rs34195482 - 3'UTR
4411 .. 4411 T/A rs192462890 - 3'UTR
4457 .. 4457 C/T rs28391755 - 3'UTR
4484 .. 4484 A/G rs188019851 - 3'UTR
4539 .. 4539 C/T rs182553604 - 3'UTR
4586 .. 4586 A/G rs139794176 - 3'UTR
4594 .. 4594 C/T rs191440490 - 3'UTR
4620 .. 4620 G/A rs150630785 - 3'UTR
4805 .. 4805 A/T rs62194934 - 3'UTR
4819 .. 4819 G/T rs62194933 - 3'UTR
4876 .. 4876 A/G rs187828942 - 3'UTR
4878 .. 4878 G/T rs201970111 - 3'UTR
4902 .. 4902 A/G rs182946457 - 3'UTR
4958 .. 4958 C/T rs56386336 - 3'UTR
4980 .. 4980 C/T rs190397394 - 3'UTR
5138 .. 5138 A/C rs185782210 - 3'UTR
5141 .. 5141 A/T rs35093813 - 3'UTR
5163 .. 5163 G/A rs181992615 - 3'UTR
5168 .. 5168 T/C rs118094777 - 3'UTR
5194 .. 5194 C/T rs201968989 + 3'UTR
5195 .. 5195 T/C rs34391080 - 3'UTR
5223 .. 5223 G/A rs138266537 - 3'UTR
5360 ^ 5361 -/C rs34621267 - 3'UTR
5565 .. 5565 G/A rs191938602 - 3'UTR
5619 .. 5619 C/T rs7563135 - 3'UTR
5825 .. 5825 C/T rs114881551 - 3'UTR
5883 .. 5883 G/A rs186278761 - 3'UTR
6001 .. 6001 A/G rs142769788 - 3'UTR
6014 .. 6014 C/G rs139566648 - 3'UTR
6034 .. 6034 C/T rs146300001 - 3'UTR
6035 .. 6035 G/A rs80261926 - 3'UTR
6189 .. 6189 G/A rs77799108 - 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
AluSq 5191 5496 -
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene Repeat mask viewerRepeat Mask Viewer