H-InvDB x AHG DB
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H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID: HIT000071748 Accession number: AF152322 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Protocadherin gamma-A2; PCDH-gamma-A2; Precursor;
 
 

Transcript original information
Accession number AF152322.1
CAGE tag ID NA
EST ID NA
Clone Number NA
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (PCDHGC5) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (PCDHGC5);
Sequence data provider NA
Annotation project NA
Length of cDNA 4605[bp] (No. of exon:4)[A:1032 T:997 G:1202 C:1374]
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) CAGAAG; 
Transcript quality feature NA
Notes NA

Gene structure information  G-integra H-DBAS cDNA-genome alignment
H-Inv cluster ID HIX0005252
Genomic location  G-integra Help Chromosome 5
Location 5q31.3
Position 140718539- 140892546
Strand +
Possible duplicated location(s) NA
Gene structure 4 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:56113
KEGG GENES KEGG GENES(56113)
GeneCard GeneCardPCDHGC5*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 HIP000022714
Predicted CDS 1..2799;  932[aa];  Orientation:+1; 
Codon Adaptation Index (CAI). 0.764
Database links RefSeq NP_061738
UniProt Q9Y5H1
CCDS CCDS47289

Motif information
ORF

length(932),orf(1:2799)
MAALQKLPHCRKLVLLCFLLATLWEARAGQIRYSVREEIDRGSFVGNIAK
DLGLEPLALAEQGVRIVSRGRSQLFALNPRSGSLVTANRIDREELCAQSA
PCLLNFNILLEDKLTIYSVEVEITDINDNAPRFGVEELELKISETTTPGF
RIPLKNAHDADVGENALQKYALNPNDHFSLDVRRGADGNKYPELVLERSL
DREEEAVHHLVLVASDGGDPVLSGTSRICVKVLDANDNAPVFTQPEYRIS
IPENTLVGTRILTVTATDADEGYYAQVVYFLEKSPGETSEVFELKSTSGE
LTIIKDLDYEDATFHEIDIEAQDGPGLLTRAKVIVTVLDVNDNAPEFYMT
SATSSVSEDSLPGTIIGLFNVHDRDSGQNAFTTCSLPEDLPFKLEKSVDN
YYRLVTTRALDREQFSFYNITLTAKDGGNPSLSTDAHILLQVADINDNAP
AFSRTSYSTYIPENNPRGASVFSVTAHDPDSNDNAHVTYSFAEDTVQGAP
LSSYISINSDTGVLYALRSFDYEQLRDLQVWVIARDSGNPPLSSNVSLSL
FVLDQNDNAPEILYPAFPTDGSTGVELAPRSAEPGYLVTKVVAVDRDSGQ
NAWLSYHLLKASEPGLFSVGLHTGEVRTARALLDRDALKQSLVVAIQDHG
QPPLSATVTLTVAVADRIPDILADLGSLEPSAIPNDSDLTLYLVVAVAAV
SCVFLAFVIVLLAHRLRRWHKSRLLQASGGSLTGMQSSHFVGVDGVRAFL
QTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEE
EREETFSQQAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQA
MILASASEAADGSSTLGGGAGTMGLSARYGPQFTLQHVPDYRQNVYIPGS
NATLTNAAGKRDGKAPAGGNGNKKKSGKKEKK*
a.a.
length
InterPro Name
length(113), motif(19:131) 113 IPR002126 Cadherin [Domain]
length(84), motif(29:112) 84 IPR013164 Cadherin, N-terminal [Domain]
length(96), motif(30:125) 96 IPR015919 Cadherin-like [Domain]
length(98), motif(31:128) 98 IPR002126 Cadherin [Domain]
length(20), motif(73:92) 20 IPR002126 Cadherin [Domain]
length(59), motif(75:133) 59 IPR002126 Cadherin [Domain]
length(11), motif(121:131) 11 IPR020894 Cadherin conserved site [Conserved_site]
length(108), motif(127:234) 108 IPR015919 Cadherin-like [Domain]
length(111), motif(129:239) 111 IPR002126 Cadherin [Domain]
length(109), motif(134:242) 109 IPR002126 Cadherin [Domain]
length(93), motif(141:233) 93 IPR002126 Cadherin [Domain]
length(86), motif(155:240) 86 IPR002126 Cadherin [Domain]
length(11), motif(230:240) 11 IPR020894 Cadherin conserved site [Conserved_site]
length(105), motif(236:340) 105 IPR015919 Cadherin-like [Domain]
length(104), motif(240:343) 104 IPR002126 Cadherin [Domain]
length(30), motif(242:271) 30 IPR002126 Cadherin [Domain]
length(105), motif(243:347) 105 IPR002126 Cadherin [Domain]
length(92), motif(247:338) 92 IPR002126 Cadherin [Domain]
length(82), motif(264:345) 82 IPR002126 Cadherin [Domain]
length(11), motif(335:345) 11 IPR020894 Cadherin conserved site [Conserved_site]
length(105), motif(340:444) 105 IPR015919 Cadherin-like [Domain]
length(106), motif(344:449) 106 IPR002126 Cadherin [Domain]
length(105), motif(348:452) 105 IPR002126 Cadherin [Domain]
length(88), motif(355:442) 88 IPR002126 Cadherin [Domain]
length(82), motif(369:450) 82 IPR002126 Cadherin [Domain]
length(13), motif(417:429) 13 IPR002126 Cadherin [Domain]
length(20), motif(431:450) 20 IPR002126 Cadherin [Domain]
length(11), motif(440:450) 11 IPR020894 Cadherin conserved site [Conserved_site]
length(125), motif(441:565) 125 IPR015919 Cadherin-like [Domain]
length(14), motif(450:463) 14 IPR002126 Cadherin [Domain]
length(114), motif(450:563) 114 IPR002126 Cadherin [Domain]
length(110), motif(453:562) 110 IPR002126 Cadherin [Domain]
length(96), motif(457:552) 96 IPR002126 Cadherin [Domain]
length(87), motif(474:560) 87 IPR002126 Cadherin [Domain]
length(27), motif(510:536) 27 IPR002126 Cadherin [Domain]
length(18), motif(544:561) 18 IPR002126 Cadherin [Domain]
length(11), motif(550:560) 11 IPR020894 Cadherin conserved site [Conserved_site]
length(111), motif(556:666) 111 IPR015919 Cadherin-like [Domain]
length(88), motif(579:666) 88 IPR002126 Cadherin [Domain]
length(104), motif(579:682) 104 IPR002126 Cadherin [Domain]
length(83), motif(582:664) 83 IPR002126 Cadherin [Domain]
length(79), motif(591:669) 79 IPR002126 Cadherin [Domain]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000071748
H-Inv cluster ID Locus viewHIX0005252
Accession number AF152322.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO;  Splicing isoformSplicing isoform
Coding potential  Help Protein coding; 
Definition Protocadherin gamma-A2; PCDH-gamma-A2; Precursor;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (Q9Y5H1)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 1038092915489334ALL
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 PCDHGC5
HGNC aliases NA
HGNC name protocadherin gamma subfamily C, 5
DDBJ PCDH-gamma-A2
UniProt PCDHGA2
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 HIP000022714
No. of interaction 4
Interaction partner(s) HIP000052049HIP000071384HIP000071384HIP000301455
BIND NA
DIP NA
MINT NA
HPRD NA
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:56113
KEGG GENES KEGG GENES(56113)
GeneCard GeneCardPCDHGC5*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 calcium ion binding (GO:0005509); 
Biological process cell adhesion (GO:0007155);  homophilic cell adhesion (GO:0007156); 
Cellular component membrane (GO:0016020);  plasma membrane (GO:0005886); 

Subcellular localization information  Last modified:27-May-2015
WoLF PSORT extracellular;  plasma membrane;  endoplasmic;  Other; 
Target P signal peptide
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.

Protein structure information (GTOP) GTOP Last modified:27-May-2015
Start End PDB_ID E-value Identity Coverage SCOP_ID
26 99 1f5aA1 3e-18 16.2 68/118 d.58.16.1
72 166 2fwuA1 1e-07 13.7 89/157 b.1.27.1
177 524 2nlzA1 4e-61 12.3 326/533 d.153.1.6
556 666 1edhA2 2e-13 28.6 104/112 b.1.6.1
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 AGhsA110123;  AGhsB190717; 
Affymetrix
GeneChip
HG-Focus 211875_x_at;  215836_s_at;  216343_at; 
HG-U133 205717_x_at;  209079_x_at;  211066_x_at;  211875_x_at;  211876_x_at;  211879_x_at;  211880_x_at;  215836_s_at;  216343_at;  216352_x_at; 
HG-U133A 205717_x_at;  209079_x_at;  211066_x_at;  211875_x_at;  211876_x_at;  211879_x_at;  211880_x_at;  215836_s_at;  216343_at;  216352_x_at; 
HG-U133A_2 205717_x_at;  209079_x_at;  211066_x_at;  211875_x_at;  211876_x_at;  211879_x_at;  211880_x_at;  215836_s_at;  216343_at;  216352_x_at; 
HG-U133B NA
HG-U133_Plus_2 205717_x_at;  209079_x_at;  211066_x_at;  211875_x_at;  211876_x_at;  211879_x_at;  211880_x_at;  215836_s_at;  216343_at;  216352_x_at; 
HG-U95 657_at; 
HG-U95A 657_at; 
HG-U95B NA
HG-U95C NA
HG-U95D NA
HG-U95E NA
HG-U95Av2 NA
HuEx-1_0 2832546;  2832547;  2832751;  2832754;  2832758;  2832759;  2832760;  2832761;  2832762;  2832763;  2832764;  2832765;  2832766;  2832767;  2832768;  2832769;  2878647;  2878651;  2878661; 
HuGeneFL L11373_at; 
Agilent Human 1A Oligo Microarray:PGID215 A_23_P354734; 
Whole Human Genome Oligo Microarray:PGID247 A_23_P354734;  A_23_P422044; 
Related H-InvDB links H-ANGELH-ANGEL DNAProbeLocatorDNAProbeLocator

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
14 .. 14 A/G rs6878145 + CDS Nonsynonymous[Gln5Arg]
28 .. 28 T/C rs191299749 + CDS Nonsynonymous[Cys10Arg]
63 .. 63 G/T rs141145650 + CDS Synonymous[Ala21Ala]
124 .. 124 G/C rs202028729 + CDS Nonsynonymous[Gly42Arg]
144 .. 144 C/G rs150708423 + CDS Nonsynonymous[Ile48Met]
145 .. 145 G/A rs201241764 + CDS Nonsynonymous[Ala49Thr]
212 .. 212 G/T rs61749035 + CDS Nonsynonymous[Arg71Met]
213 .. 213 G/A rs143495008 + CDS Synonymous[Arg71Arg]
215 .. 215 C/G rs147197246 + CDS Nonsynonymous[Ser72Cys]
261 .. 261 G/A rs140493211 + CDS Synonymous[Ala87Ala]
359 .. 359 A/G rs144548345 + CDS Nonsynonymous[Glu120Gly]
398 .. 398 T/C rs144608740 + CDS Nonsynonymous[Phe133Ser]
425 .. 425 T/C rs148517928 + CDS Nonsynonymous[Ile142Thr]
440 .. 440 C/A rs199543217 + CDS Nonsynonymous[Thr147Lys]
441 .. 441 G/A rs200844226 + CDS Synonymous[Thr147Thr]
456 .. 456 T/G rs200981359 + CDS Nonsynonymous[Ile152Met]
458 .. 458 C/T rs142803333 + CDS Nonsynonymous[Pro153Leu]
471 .. 471 G/C rs151023570 + CDS Synonymous[Ala157Ala]
487 .. 487 G/C rs190454391 + CDS Nonsynonymous[Gly163Arg]
507 .. 507 G/A rs11952734 + CDS Synonymous[Lys169Lys]
528 .. 528 C/T rs143658910 + CDS Synonymous[Asp176Asp]
529 .. 529 C/A rs146857860 + CDS Nonsynonymous[His177Asn]
541 .. 541 G/T rs202048719 + CDS Nonsynonymous[Asp181Tyr]
552 .. 552 G/A rs6861047 + CDS Synonymous[Arg184Arg]
620 .. 620 T/G rs75694557 + CDS Nonsynonymous[Val207Gly]
631 .. 631 G/A rs201113857 + CDS Nonsynonymous[Val211Ile]
635 .. 635 T/C rs150493844 + CDS Nonsynonymous[Leu212Pro]
638 .. 638 T/C rs138332940 + CDS Nonsynonymous[Val213Ala]
686 .. 686 G/A rs61749056 + CDS Nonsynonymous[Cys229Tyr]
692 .. 692 A/G rs143458039 + CDS Nonsynonymous[Lys231Arg]
745 .. 745 A/T rs150706052 + CDS Nonsynonymous[Ile249Leu]
749 .. 749 G/A rs143562227 + CDS Nonsynonymous[Ser250Asn]
778 .. 778 C/G rs145851665 + CDS Nonsynonymous[Arg260Gly]
779 .. 779 G/A rs201553091 + CDS Nonsynonymous[Arg260Gln]
793 .. 793 A/G rs138877576 + CDS Nonsynonymous[Thr265Ala]
820 .. 820 T/C rs139043857 + CDS Nonsynonymous[Tyr274His]
834 .. 834 A/G rs200504537 + CDS Synonymous[Val278Val]
842 .. 842 T/C rs200162193 + CDS Nonsynonymous[Leu281Pro]
903 .. 903 G/A rs141252229 + CDS Synonymous[Leu301Leu]
925 .. 925 T/A rs150760276 + CDS Nonsynonymous[Tyr309Asn]
940 .. 940 T/C rs200811046 + CDS Nonsynonymous[Phe314Leu]
962 .. 962 C/T rs202021513 + CDS Nonsynonymous[Ala321Val]
966 .. 966 G/C rs139200458 + CDS Nonsynonymous[Gln322His]
974 .. 974 C/T rs185283449 + CDS Nonsynonymous[Pro325Leu]
991 .. 991 G/A rs200945171 + CDS Nonsynonymous[Ala331Thr]
1002 .. 1002 C/A rs149528645 + CDS Synonymous[Ile334Ile]
1014 .. 1014 G/T rs201049645 + CDS Synonymous[Leu338Leu]
1018 .. 1018 G/A rs144241311 + CDS Nonsynonymous[Val340Met]
1060 .. 1060 A/G rs140017060 + CDS Nonsynonymous[Ser354Gly]
1061 .. 1061 G/C rs189012614 + CDS Nonsynonymous[Ser354Thr]
1095 .. 1095 A/G rs143727841 + CDS Nonsynonymous[Ile365Met]
1110 .. 1110 T/C rs146814680 + CDS Synonymous[Asn370Asn]
1138 .. 1138 G/A rs149474643 + CDS Nonsynonymous[Ala380Thr]
1196 .. 1196 A/G rs200323374 + CDS Nonsynonymous[Asp399Gly]
1258 .. 1258 A/G rs139578724 + CDS Nonsynonymous[Ile420Val]
1286 .. 1286 A/T rs76916777 + CDS Nonsynonymous[Asn429Ile]
1293 .. 1293 C/A rs151082079 + CDS Synonymous[Ser431Ser]
1328 .. 1328 C/T rs141105367 + CDS Nonsynonymous[Ala443Val]
1334 .. 1334 T/C rs199560944 + CDS Nonsynonymous[Ile445Thr]
1346 .. 1346 C/T rs61738537 + CDS Nonsynonymous[Ala449Val]
1360 .. 1360 C/T rs150266542 + CDS Nonsynonymous[Arg454Cys]
1373 .. 1373 C/T rs185685102 + CDS Nonsynonymous[Ser458Phe]
1377 .. 1377 C/T rs151215678 + CDS Synonymous[Thr459Thr]
1384 .. 1384 C/T rs141458338 + CDS Nonsynonymous[Pro462Ser]
1412 .. 1412 T/C rs111710453 + CDS Nonsynonymous[Val471Ala]
1425 .. 1425 G/C rs147569184 + CDS Synonymous[Thr475Thr]
1436 .. 1436 C/G rs201743768 + CDS Nonsynonymous[Pro479Arg]
1437 .. 1437 C/T rs141955016 + CDS Synonymous[Pro479Pro]
1453 .. 1453 G/A rs199786188 + CDS Nonsynonymous[Ala485Thr]
1465 .. 1465 T/C rs145901587 + CDS Nonsynonymous[Tyr489His]
1492 .. 1492 G/C rs138736929 + CDS Nonsynonymous[Gly498Arg]
1513 .. 1513 A/C rs199835971 + CDS Nonsynonymous[Ile505Leu]
1540 .. 1540 C/T rs149259592 + CDS Nonsynonymous[Leu514Phe]
1542 .. 1542 C/T rs143563573 + CDS Synonymous[Leu514Leu]
1565 .. 1565 A/T rs201470140 + CDS Nonsynonymous[Tyr522Phe]
1572 .. 1572 G/T rs148025458 + CDS Nonsynonymous[Gln524His]
1582 .. 1582 T/A rs141806381 + CDS Nonsynonymous[Leu528Met]
1602 .. 1602 G/A rs146024512 + CDS Synonymous[Ala534Ala]
1604 .. 1604 G/A rs116787237 + CDS Nonsynonymous[Arg535Gln]
1606 .. 1606 G/T rs199852408 + CDS Nonsynonymous[Asp536Tyr]
1629 .. 1629 T/C rs141947870 + CDS Synonymous[Ser543Ser]
1645 .. 1645 A/C rs146288793 + CDS Nonsynonymous[Ser549Arg]
1653 .. 1653 C/G rs139317352 + CDS Nonsynonymous[Phe551Leu]
1654 .. 1654 G/A rs200006551 + CDS Nonsynonymous[Val552Met]
1674 .. 1674 C/T rs150000282 + CDS Synonymous[Asn558Asn]
1695 .. 1695 T/C rs145370073 + CDS Synonymous[Pro565Pro]
1699 .. 1699 T/C rs148764074 + CDS Nonsynonymous[Phe567Leu]
1703 .. 1703 C/G rs142481120 + CDS Nonsynonymous[Pro568Arg]
1711 .. 1711 G/T rs147953582 + CDS Nonsynonymous[Gly571Cys]
1719 .. 1719 T/C rs61749028 + CDS Synonymous[Thr573Thr]
1734 .. 1734 G/T rs144207825 + CDS Synonymous[Ala578Ala]
1737 .. 1737 C/T rs200779662 + CDS Synonymous[Pro579Pro]
1779 .. 1779 G/A/T rs147764693 + CDS
1783 .. 1783 G/A rs61749034 + CDS Nonsynonymous[Asp595Asn]
1796 .. 1796 G/T rs200303682 + CDS Nonsynonymous[Gly599Val]
1820 .. 1820 A/G rs61749022 + CDS Nonsynonymous[His607Arg]
1827 .. 1827 C/G rs138050230 + CDS Synonymous[Leu609Leu]
1836 .. 1836 C/A rs149085110 + CDS Nonsynonymous[Ser612Arg]
1841 .. 1841 C/A rs144923915 + CDS Nonsynonymous[Pro614Gln]
1842 .. 1842 G/A rs200266922 + CDS Synonymous[Pro614Pro]
1847 .. 1847 T/C rs201033163 + CDS Nonsynonymous[Leu616Pro]
1865 .. 1865 A/G rs202222956 + CDS Nonsynonymous[His622Arg]
1873 .. 1873 G/C rs199765466 + CDS Nonsynonymous[Glu625Gln]
1880 .. 1880 G/A rs138760869 + CDS Nonsynonymous[Arg627His]
1926 .. 1926 C/A rs141820910 + CDS Synonymous[Leu642Leu]
1927 .. 1927 G/T rs146306949 + CDS Nonsynonymous[Val643Leu]
1936 .. 1936 A/G rs148082357 + CDS Nonsynonymous[Ile646Val]
1936 .. 1936 A/G rs61749030 + CDS Nonsynonymous[Ile646Val]
1943 .. 1943 A/T rs141905537 + CDS Nonsynonymous[Asp648Val]
1978 .. 1978 C/G rs35592458 + CDS Nonsynonymous[Leu660Val]
1989 .. 1989 C/T rs139922013 + CDS Synonymous[Ala663Ala]
2005 .. 2005 C/T rs147941013 + CDS Nonsynonymous[Pro669Ser]
2011 .. 2011 A/C rs147498000 + CDS Nonsynonymous[Ile671Leu]
2033 .. 2033 T/A rs140216094 + CDS Nonsynonymous[Leu678His]
2034 .. 2034 C/A rs145627101 + CDS Synonymous[Leu678Leu]
2041 .. 2041 T/C rs11575970 + CDS Nonsynonymous[Ser681Pro]
2048 .. 2048 T/A rs140187884 + CDS Nonsynonymous[Ile683Lys]
2061 .. 2061 G/C rs142977117 + CDS Synonymous[Ser687Ser]
2074 .. 2074 T/G rs185936268 + CDS Nonsynonymous[Tyr692Asp]
2085 .. 2085 G/A rs148818504 + CDS Synonymous[Val695Val]
2097 .. 2097 G/C rs142588721 + CDS Synonymous[Ala699Ala]
2169 .. 2169 C/T rs201552018 + CDS Synonymous[Arg723Arg]
2228 .. 2228 T/C rs150955204 + CDS Nonsynonymous[Val743Ala]
2259 .. 2259 T/C rs140756059 + CDS Synonymous[Tyr753Tyr]
2276 .. 2276 T/A rs112362187 + CDS Nonsynonymous[Leu759His]
2398 .. 2398 G/C rs200292110 + CDS Nonsynonymous[Glu800Gln]
2416 .. 2416 T/C rs66823521 + CDS Nonsynonymous[Phe806Leu]
2420 .. 2420 C/T rs57126813 + CDS Nonsynonymous[Ser807Phe]
2461 .. 2461 G/A rs201391904 + CDS Nonsynonymous[Ala821Thr]
2473 .. 2473 G/A rs200418116 + CDS Nonsynonymous[Gly825Ser]
2529 .. 2529 T/C rs149352680 + CDS Synonymous[Phe843Phe]
2628 .. 2628 C/T rs143630962 + CDS Synonymous[Ser876Ser]
2629 .. 2629 G/A rs114669158 + CDS Nonsynonymous[Ala877Thr]
2632 .. 2632 C/T rs148119281 + CDS Nonsynonymous[Arg878Cys]
2637 .. 2637 C/T rs141873183 + CDS Synonymous[Tyr879Tyr]
2640 .. 2640 A/G rs2233612 + CDS Synonymous[Gly880Gly]
2662 .. 2662 G/A rs116366286 + CDS Nonsynonymous[Val888Met]
2675 .. 2675 G/A rs61749029 + CDS Nonsynonymous[Arg892His]
2702 .. 2702 A/G rs201009079 + CDS Nonsynonymous[Asn901Ser]
2718 .. 2718 C/T rs143362044 + CDS Synonymous[Asn906Asn]
2761 .. 2761 G/A rs200541479 + CDS Nonsynonymous[Gly921Ser]
2777 .. 2777 C/T rs202071188 + CDS Nonsynonymous[Ser926Leu]
2796 .. 2796 G/A rs147534370 + CDS Synonymous[Lys932Lys]
2828 .. 2828 C/T rs201024828 + 3'UTR
2829 .. 2829 G/A rs2233613 + 3'UTR
2934 .. 2934 G/A rs76613492 + 3'UTR
2990 .. 2990 T/C rs115159796 + 3'UTR
3000 .. 3000 C/A rs191106767 + 3'UTR
3236 .. 3236 C/A rs146235929 + 3'UTR
3254 .. 3254 G/C rs4912608 + 3'UTR
3329 .. 3329 T/G rs148447880 + 3'UTR
3491 .. 3491 G/A rs142624814 + 3'UTR
3512 .. 3512 T/C rs113814137 + 3'UTR
3518 .. 3518 C/T rs150999050 + 3'UTR
3525 .. 3525 T/G rs187622252 + 3'UTR
3714 .. 3714 A/G rs192947391 + 3'UTR
3797 .. 3797 T/C rs140884268 + 3'UTR
3820 .. 3820 G/A rs111365449 + 3'UTR
4011 .. 4011 A/G rs78180647 + 3'UTR
4079 .. 4079 G/A rs185198109 + 3'UTR
4172 .. 4172 C/T rs147780926 + 3'UTR
4465 .. 4465 C/T rs141207714 + 3'UTR
4484 .. 4484 G/T rs189734474 + 3'UTR
4540 .. 4540 C/T rs112402554 + 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
No data available
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene Repeat mask viewerRepeat Mask Viewer