H-InvDB_9.0 released on May 27, 2015.
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H-Inv ID (HIT)
H-Inv cluster ID (HIX)
H-Inv protein ID (HIP)
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Definition*
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---
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H-Invitational ID:
HIT000435698
Accession number:
BC150172
Created date:
26-Mar-2013
Last modified:
27-May-2015
Definition:
Protocadherin gamma-B3; PCDH-gamma-B3; Precursor;
Select format
Flat file
XML file
Nucleotide sequence fasta
Protein sequence fasta
Transcript original information
Accession number
BC150172.1
CAGE tag ID
NA
EST ID
NA
Clone Number
MGC:164749 IMAGE:40147143
Experimental resources
NBRC
;
HGPD
;
Antibody (PCDHGC5)
;
Catalog (PCDHGC5)
;
Sequence data provider
NA
Annotation project
NA
Length of cDNA
4758[bp] (No. of exon:4)[A:1141 T:1029 G:1220 C:1368]
Devision
HUM
Molecular type
mRNA
Library origin
Cell type
NA
Tissue type
Donated clones,Novartis FGA collection
Develpmental stage
NA
Sequence quality information
CDS feature
Complete CDS
Kozak sequence
NA
PolyA
Site: 4720(+) Signal: 4702-4706(+)
Vector/adapter sequence
NA
Frame shift
NA
Remaining intron
NA
Splice site acceptor (NAGNAG)
CAGAAG;
Transcript quality feature
NA
Notes
NA
CAGCGGAGACACCCATTAGAGAACCCAAGCACAAAGACAAAGCAAATAGT TGGTCCTGCTCGGAGAACTCTTGGGATTATTTAAAGATCTCCTCTCCTCG GATTTAGAAAGGCAAAGGCGCAGAGAGCGGGATGGGAAATAGCTCCGGAT GGAGGGGCCCAGCAGGGCAGAGGCGAATGCTATTTCTCTTCCTGCTCTCT TTGTTAGACCAGGCTCTCTCCGAACCGATCCGCTACGCTATTCCCGAGGA GCTGGACAGGGGCTCGCTGGTAGGGAACCTCGCCAAGGACCTGGGGTTTG GCGTGGGGGATTTACCTACTAGGAACCTGCGGGTTATTGCAGAGAAGAAA TTCTTTACCGTGAGCCCCGAAAATGGGAACTTACTTGTGAGCGACCGTAT AGACCGAGAGGAGATTTGTGGCAAGAAGTCGACGTGTGTTCTGGAATTTG AAATGGTTGCTGAAAAGCCTTTAAACTTTTTTCATGTAACTGTGCTGATC CAGGATATTAACGACAACCCACCGACCTTTAGCCAAAATATCACTGAGCT GGAAATCAGCGAACTGGCTCTCACTGGAGCCACATTTGCCCTGGAATCTG CGCAAGATCCTGATGTAGGTGTCAATTCGCTGCAGCAGTACTACCTCAGC CCTGATCCGCACTTCTCTTTGATTCAGAAGGAGAACCTGGATGGCAGTAG GTACCCAGAGCTAGTACTGAAAGCACCCCTGGACAGGGAAGAGCAGCCAC ATCACCACCTGGTCCTCACAGCTGTGGATGGGGGCGAGCCCTCCAGAAGC TGTACCACCCAGATCAGGGTAATTGTCGCAGATGCAAATGATAACCCCCC AGTATTTACTCAGGACATGTACAGGGTCAATGTTGCAGAGAACCTGCCCG CTGGCTCCTCCGTATTAAAAGTGATGGCCATTGACATGGATGAGGGCATC AATGCCGAAATCATCTATGCCTTCATCAATATTGGCAAGGAAGTGAGACA ACTGTTCAAGCTGGACAGTAAAACGGGGGAACTCACCACTATTGGAGAAC TGGACTTTGAAGAGAGAGATAGCTACACAATTGGGGTGGAAGCAAAGGAT GGTGGACATCACACTGCATATTGTAAAGTACAGATAGATATTTCAGATGA AAATGACAATGCCCCGGAGATAACCCTGGCTTCTGAATCCCAACATATAC AAGAAGATGCTGAGCTGGGGACTGCCGTTGCCCTGATCAAAACACATGAT CTAGATTCTGGATTTAATGGAGAAATCCTATGCCAACTAAAAGGAAACTT CCCCTTTAAAATCGTTCAAGATACCAAAAACACATACAGGTTGGTGACAG ATGGAGCCCTGGACCGGGAGCAGATCCCAGAATACAATGTGACGATCACA GCTACCGACAAAGGCAATCCACCGCTCTCCTCCAGCAAGACCATCACTCT GCACATCCTTGATGTCAACGACAACGTTCCCGTTTTCCACCAGGCCTCCT ACACCGTGCATGTAGCTGAGAACAATCCGCCTGGAGCCTCCATTGCGCAT GTCAGAGCCTCGGATCCCGACTTGGGACCTAATGGCCTTGTCTCCTACTA CATCGTGGCCAGTGACCTGGAGCCGCGGGAGCTGTCGTCCTACGTGTCCG TGAGCGCGCGGAGCGGGGTGGTGTTCGCGCAGCGAGCCTTCGACCACGAG CAGCTGCGTGCCTTCGAGCTCACTCTGCAGGCCCGCGACCAGGGCTCGCC TACGCTCAGCGCCAACGTGAGCCTGCGCGTGTTGGTGGACGACCGCAACG ACAATGCACCGCTGGTGCTGTACCCAGCTCTGGGGCCCGAAGGCTCTGCG CTCTTCGATATGGTGCCGCGCTCTGCAGAGCCTGGCTACCTGGTGACCAA GGTGGTGGCGGTGGACGCAGACTCGGGATACAACGCCTGGCTGTCCTACC ACATTGTGCAGGCCAGCGAGCCCGGGCTGTTCAGCCTGGGCCTGCGCACG GGTGAGGTGCGCACGGCGCGTACCTTGGGCGACAGGGAGGCCGCCCGCCA GCGCCTGCTGGTCACTGTGCGTGATGGAGGACAGCAGCCTCTTTCAGCCA CCGTCATGCTGCACCTAATCTTCGCAGATAGCTTGCAAGAGATACAACCT GACCTTAGCGACCGCCCCACTCCCTCTGACCCTCAGGCGGAGCTACAGTT TCACCTAGTAGTGGCGTTGGCCTTGATCTCAGTGCTCTTCCTCCTCGCGG TGATTCTGGCAATCTCCCTGCGCCTGCGATGCTCCTCCAGACCCGCCACT GAGGGCTACTTTCAGCCTGGTGTCTGCTTCAAGACTGTACCTGGAGTTCT CCCCACCTACAGCGAAAGGACTTTGCCTTATTCCTACAATCCGTGTGCTG CCTCACATTCCTCAAACACCGAGTTTAAATTTCTCAATATAAAGGCTGAA AATGCTGCACCACAAGATCTTCTATGTGATGAAGCCTCTTGGTTTGAAAG TAATGACAATCCAGAAATGCCTTCTAATTCAGGCAATTTGCAAAAGCAAG CCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACC AGCGGCTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTT TGACACAGAGATGCTGCAAGCCATGATCTTGGCGTCCGCCAGTGAAGCTG CTGATGGGAGCTCCACCCTGGGAGGGGGTGCCGGCACCATGGGATTGAGC GCCCGCTACGGACCCCAGTTCACCCTGCAGCACGTGCCCGACTACCGCCA GAATGTCTACATCCCAGGCAGCAATGCCACACTGACCAACGCAGCTGGCA AACGGGATGGCAAGGCCCCAGCAGGTGGCAATGGCAACAAGAAGAAGTCG GGCAAGAAGGAGAAGAAGTAACATGGAGGCCAGGCCAAGAGCCACAGGGC GGCCTCTCCCCAACCAGCCCAGCTTCTCCTTACCTGCACCCAGGCCTCAG AGTTTCAGGGCTAACCCCCAGAATACTGGTAGGGGCCAAGGCCATGCTCC CCTTGGGAAACAGAAACAAGTGCCCAGTCAGCACCTACCCCTTCCCCCCC AGGGGGTTGAATATGCAAAAGCAGTTCCGCTGGGAACCCCCATCCAATCA ACTGCTGTACCCATGGGGGTAGTGGGGTTACTGTAGACACCAAGAACCAT TTGCCACACCCCGTTTAGTTACAGCTGAACTCCTCCATCTTCCAAATCAA TCAGGCCCATCCATCCCATGCCTCCCTCCTCCCCACCCCACTCCAACAGT TCCTCTTTCCCGAGTAAGGTGGTTGGGGTGTTGAAGTACCAAGTAACCTA CAAGCCTCCTAGTTCTGAAAAGTTGGAAGGGCATCATGACCTCTTGGCCT CTCCTTTGATTCTCAATCTTCCCCCAAAGCATGGTTTGGTGCCAGCCCCT TCACCTCCTTCCAGAGCCCAAGATCAATGCTCAAGTTTTGGAGGACATGA TCACCATCCCCATGGTACTGATGCTTGCTGGATTTAGGGAGGGCATTTTG CTACCAAGCCTCTTCCCAACGCCCTGGGGACCAGTCTTCTGTTTTGTTTT TCATTGTTTGACGTTTCCACTGCATGCCTTGACTTCCCCCACCTCCTCCT CAAACAAGAGACTCCACTGCATGTTCCAAGACAGTATGGGGTGGTAAGAT AAGGAAGGGAAGTGTGTGGATGTGGATGGTGGGGGCATGGACAAAGCTTG ACACATCAAGTTATCAAGGCCTTGGAGGAGGCTCTGTATGTCCTCAGGGG ACTGACAACATCCTCCAGATTCCAGCCATAAACCAATAACTAGGCTGGAC CCTTCCCACTACATAATAGGGCTCAGCCCAGGCAGCCAGCTTTGGGCTGA GCTAACAGGACCAATGGATTAAACTGGCATTTCAGTCCAAGGAAGCTCGA AGCAGGTTTAGGACCAGGTCCCCTTGAGAGGTCAGAGGGGCCTCTGTGGG TGCTGGGTACTCCAGAGGTGCCACTGGTGGAAGGGTCAGCGGAGCCCCAG CAGGAAGGGTGGGCCAGCCAGGCCATTCTTAGTCCCTGGGTTGGGGAGGC AGGGAGCTAGGGCAGGGACCAAATGAACAGAAAGTCTCAGCCCAGGATGG GGCTTCTTCAACAGGGCCCCTGCCCTCCTGAAGCCTCAGTCCTTCACCTT GCCAGGTGCCGTTTCTCTTCCGTGAAGGCCACTGCCCAGGTCCCCAGTGC GCCCCCTAGTGGCCATAGCCTGGTTAAAGTTCCCCAGTGCCTCCTTGTGC ATAGACCTTCTTCTCCCACCCCCTTCTGCCCCTGGGTCCCCGGCCATCCA GCGGGGCTGCCAGAGAACCCCAGACCTGCCCTTACAGTAGTGTAGCGCCC CCTCCCTCTTTCGGCTGGTGTAGAATAGCCAGTAGTGTAGTGCGGTGTGC TTTTACGTGATGGCGGGTGGGCAGCGGGCGGCGGGCTCCGCGCAGCCGTC TGTCCTTGATCTGCCCGCGGCGGCCCGTGTTGTGTTTTGTGCTGTGTCCA CGCGCTAAGGCGACCCCCTCCCCCGTACTGACTTCTCCTATAAGCGCTTC TCTTCGCATAGTCACGTAGCTCCCACCCCACCCTCTTCCTGTGTCTCACG CAAGTTTTATACTCTAATATTTATATGGCTTTTTTTCTTCGACAAAAAAA TAATAAAACGTTTCTTCTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA
Gene structure information
H-Inv cluster ID
HIX0005252
Genomic location
Chromosome
5
Location
5q31.3
Position
140749831- 140892539
Strand
+
Possible duplicated location(s)
NA
Gene structure
4 exon(s)
Database links
RefSeq
NA
Ensembl
NA
Entrez Gene
Entrez Gene ID:56102
;
KEGG GENES
KEGG GENES(56102)
;
GeneCard
PCDHGC5
;
*GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links
H-DBAS
;
G-integra
;
cDNA-genome alignment
;
Predicted CDS information
HIP ID
HIP000199767
Predicted CDS
132..2921; 929[aa]; Orientation:+3;
Codon Adaptation Index (CAI).
0.764
Database links
RefSeq
NA
UniProt
NA
CCDS
CCDS58980
;
MGNSSGWRGPAGQRRMLFLFLLSLLDQALSEPIRYAIPEELDRGSLVGNL AKDLGFGVGDLPTRNLRVIAEKKFFTVSPENGNLLVSDRIDREEICGKKS TCVLEFEMVAEKPLNFFHVTVLIQDINDNPPTFSQNITELEISELALTGA TFALESAQDPDVGVNSLQQYYLSPDPHFSLIQKENLDGSRYPELVLKAPL DREEQPHHHLVLTAVDGGEPSRSCTTQIRVIVADANDNPPVFTQDMYRVN VAENLPAGSSVLKVMAIDMDEGINAEIIYAFINIGKEVRQLFKLDSKTGE LTTIGELDFEERDSYTIGVEAKDGGHHTAYCKVQIDISDENDNAPEITLA SESQHIQEDAELGTAVALIKTHDLDSGFNGEILCQLKGNFPFKIVQDTKN TYRLVTDGALDREQIPEYNVTITATDKGNPPLSSSKTITLHILDVNDNVP VFHQASYTVHVAENNPPGASIAHVRASDPDLGPNGLVSYYIVASDLEPRE LSSYVSVSARSGVVFAQRAFDHEQLRAFELTLQARDQGSPTLSANVSLRV LVDDRNDNAPLVLYPALGPEGSALFDMVPRSAEPGYLVTKVVAVDADSGY NAWLSYHIVQASEPGLFSLGLRTGEVRTARTLGDREAARQRLLVTVRDGG QQPLSATVMLHLIFADSLQEIQPDLSDRPTPSDPQAELQFHLVVALALIS VLFLLAVILAISLRLRCSSRPATEGYFQPGVCFKTVPGVLPTYSERTLPY SYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNS GNLQKQAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL ASASEAADGSSTLGGGAGTMGLSARYGPQFTLQHVPDYRQNVYIPGSNAT LTNAAGKRDGKAPAGGNGNKKKSGKKEKK*
Motif information
a.a.
length
InterPro
Name
112
IPR002126
Cadherin [Domain]
108
IPR002126
Cadherin [Domain]
95
IPR015919
Cadherin-like [Domain]
81
IPR013164
Cadherin, N-terminal [Domain]
61
IPR002126
Cadherin [Domain]
20
IPR002126
Cadherin [Domain]
11
IPR020894
Cadherin conserved site [Conserved_site]
108
IPR015919
Cadherin-like [Domain]
110
IPR002126
Cadherin [Domain]
109
IPR002126
Cadherin [Domain]
93
IPR002126
Cadherin [Domain]
86
IPR002126
Cadherin [Domain]
11
IPR020894
Cadherin conserved site [Conserved_site]
119
IPR015919
Cadherin-like [Domain]
104
IPR002126
Cadherin [Domain]
30
IPR002126
Cadherin [Domain]
105
IPR002126
Cadherin [Domain]
91
IPR002126
Cadherin [Domain]
82
IPR002126
Cadherin [Domain]
11
IPR020894
Cadherin conserved site [Conserved_site]
104
IPR015919
Cadherin-like [Domain]
105
IPR002126
Cadherin [Domain]
105
IPR002126
Cadherin [Domain]
89
IPR002126
Cadherin [Domain]
82
IPR002126
Cadherin [Domain]
13
IPR002126
Cadherin [Domain]
20
IPR002126
Cadherin [Domain]
11
IPR020894
Cadherin conserved site [Conserved_site]
124
IPR015919
Cadherin-like [Domain]
114
IPR002126
Cadherin [Domain]
14
IPR002126
Cadherin [Domain]
110
IPR002126
Cadherin [Domain]
96
IPR002126
Cadherin [Domain]
87
IPR002126
Cadherin [Domain]
27
IPR002126
Cadherin [Domain]
18
IPR002126
Cadherin [Domain]
11
IPR020894
Cadherin conserved site [Conserved_site]
108
IPR015919
Cadherin-like [Domain]
98
IPR002126
Cadherin [Domain]
89
IPR002126
Cadherin [Domain]
81
IPR002126
Cadherin [Domain]
82
IPR002126
Cadherin [Domain]
Gene function information
H-Inv ID
HIT000435698
H-Inv cluster ID
HIX0005252
Accession number
BC150172.1
CAGE tag ID
NA
EST ID
NA
Transcript feature
NO;
Splicing isoform
Coding potential
Protein coding;
Definition
Protocadherin gamma-B3; PCDH-gamma-B3; Precursor;
Similarity category
Category: Identical to known human protein(Category I).
Identical to known human protein (
Q9Y5G1
) [Identity/coverage = 99.892%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence
Protein evidence
PubMed ID
10380929
;
15372022
;
15489334
;
ALL
;
Gene family/group
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
PCDHGB3
UniProt
PCDHGB3
EC number
NA
GGDB
(GlycoGene Database)
Gene symbol
NA
Familly
NA
Designation
NA
Expression
NA
KEGG metabolic pathway
NA
Protein-protein interaction (PPI)
H-Inv protein ID
HIP000199767
No. of interaction
11
Interaction partner(s)
HIP000010782
;
HIP000031442
;
HIP000032747
;
HIP000046840
;
HIP000048574
;
HIP000079553
;
HIP000082159
;
HIP000085884
;
HIP000110009
;
HIP000110470
;
HIP000122282
;
BIND
NA
DIP
NA
MINT
NA
HPRD
NA
IntAct
NA
Database links
RefSeq
NA
Ensembl
NA
Entrez Gene
Entrez Gene ID:56102
;
KEGG GENES
KEGG GENES(56102)
;
GeneCard
PCDHGC5
;
*GeneCards is provided free to academic non-profit institutions.
etc
Human-Gene diversity Of Life-style related Diseases
;
Curation status
Auto-annotated
Notes
NA
Related H-InvDB links
Gene family;
Similarity Search Tool;
TACT
;
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; peroxisome; Other;
Target P
signal peptide
SOSUI
membrane protein
TMHMM
membrane protein
PTS1
Not targeted
Related H-InvDB links
LIFEdb;
JRE-1.4.0 or later is required.
Download JRE at
Sun's web site.
Protein structure information (GTOP)
Last modified:27-May-2015
Start
End
PDB_ID
E-value
Identity
Coverage
SCOP_ID
5
97
1f5aA1
9e-18
15.7
89/118
d.58.16.1
73
181
1nkgA2
9e-10
8.9
103/171
b.18.1.25
199
610
1dnvA
1e-66
8.7
379/415
b.121.5.3
581
661
1f15A
5e-11
8.5
75/157
b.121.4.5
Related H-InvDB links
GTOP
Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information
Single Nucleotide Polymorphism (SNP) and indel
Location
Variation
dbSNP ID
Strand
CDS/UTR
Translation
18 .. 18
A/G
rs184302654
+
5'UTR
125 .. 125
G/A
rs10052885
+
5'UTR
135 .. 135
G/A
rs189405542
+
CDS
Nonsynonymous[Gly2Arg]
154 .. 154
G/A
rs74964649
+
CDS
Nonsynonymous[Arg8Lys]
155 .. 155
G/A
rs145463208
+
CDS
Synonymous[Arg8Arg]
190 .. 190
T/A
rs6860590
+
CDS
Nonsynonymous[Phe20Tyr]
214 .. 214
C/T
rs6860609
+
CDS
Nonsynonymous[Ala28Val]
397 .. 397
G/T
rs199537402
+
CDS
Nonsynonymous[Arg89Leu]
466 .. 466
A/T
rs73265845
+
CDS
Nonsynonymous[Lys112Met]
557 .. 557
C/T
rs140287572
+
CDS
Synonymous[Ile142Ile]
590 .. 590
C/T
rs73265846
+
CDS
Synonymous[Ala153Ala]
609 .. 609
C/T
rs201155008
+
CDS
Nonsynonymous[Pro160Ser]
630 .. 630
C/G
rs116495533
+
CDS
Nonsynonymous[Leu167Val]
687 .. 687
C/T
rs78666647
+
CDS
Synonymous[Leu186Leu]
720 .. 720
A/G
rs200655179
+
CDS
Nonsynonymous[Lys197Glu]
767 .. 767
C/T
rs62378420
+
CDS
Synonymous[Leu212Leu]
844 .. 844
A/G
rs202073589
+
CDS
Nonsynonymous[Asn238Ser]
880 .. 880
A/G
rs199674539
+
CDS
Nonsynonymous[Asn250Ser]
882 .. 882
G/A
rs144065486
+
CDS
Nonsynonymous[Val251Ile]
900 .. 900
G/C
rs79773129
+
CDS
Nonsynonymous[Ala257Pro]
941 .. 941
T/C
rs141363854
+
CDS
Synonymous[Asp270Asp]
946 .. 946
G/A
rs143352621
+
CDS
Nonsynonymous[Gly272Asp]
1019 .. 1019
T/G
rs201701201
+
CDS
Nonsynonymous[Ser296Arg]
1038 .. 1038
A/G
rs199851082
+
CDS
Nonsynonymous[Thr303Ala]
1070 .. 1070
T/G
rs201139834
+
CDS
Nonsynonymous[Asp313Glu]
1109 .. 1109
T/A
rs73265849
+
CDS
Nonsynonymous[His326Gln]
1137 .. 1137
G/C
rs201084970
+
CDS
Nonsynonymous[Asp336His]
1199 .. 1199
A/G
rs181808735
+
CDS
Nonsynonymous[Ile356Met]
1266 .. 1266
A/G
rs200031435
+
CDS
Nonsynonymous[Asn379Asp]
1298 .. 1298
C/G
rs2240697
+
CDS
Nonsynonymous[Asn389Lys]
1314 .. 1314
G/A
rs202142331
+
CDS
Nonsynonymous[Val395Ile]
1415 .. 1415
C/G
rs200964276
+
CDS
Synonymous[Gly428Gly]
1424 .. 1424
G/C
rs201325462
+
CDS
Synonymous[Pro431Pro]
1432 .. 1432
C/T
rs186000917
+
CDS
Nonsynonymous[Ser434Phe]
1458 .. 1458
C/T
rs199558038
+
CDS
Nonsynonymous[Leu443Phe]
1510 .. 1510
A/C
rs148367405
+
CDS
Nonsynonymous[His460Pro]
1529 .. 1529
G/T
rs190449546
+
CDS
Synonymous[Pro466Pro]
1559 .. 1559
C/T
rs3749776
-
CDS
Synonymous[Ala476Ala]
1583 .. 1583
T/A
rs201850389
+
CDS
Nonsynonymous[Asn484Lys]
1617 .. 1617
C/G
rs62378421
+
CDS
Nonsynonymous[Leu496Val]
1659 .. 1659
C/T
rs200368368
+
CDS
Nonsynonymous[Arg510Trp]
1683 .. 1683
C/T
rs200127619
+
CDS
AA-STOP[Arg518*]
1685 .. 1685
A/C
rs200505160
+
CDS
Synonymous[Arg518Arg]
1839 .. 1839
G/A
rs200898659
+
CDS
Nonsynonymous[Glu570Lys]
1866 .. 1866
C/A
rs62620756
+
CDS
Nonsynonymous[Pro579Thr]
1868 .. 1868
G/A
rs181587030
+
CDS
Synonymous[Pro579Pro]
1934 .. 1934
C/T
rs57763341
+
CDS
Synonymous[Asn601Asn]
1970 .. 1970
G/A
rs140609729
+
CDS
Synonymous[Glu613Glu]
2010 .. 2010
C/A
rs201775561
+
CDS
Nonsynonymous[Arg627Ser]
2023 .. 2023
C/T
rs62620706
+
CDS
Nonsynonymous[Thr631Ile]
2036 .. 2036
G/T
rs35459734
+
CDS
Nonsynonymous[Arg635Ser]
2274 .. 2274
C/A
rs138338803
+
CDS
Nonsynonymous[Leu715Met]
2421 .. 2421
G/A
rs199934753
+
CDS
Nonsynonymous[Glu764Lys]
2491 .. 2491
G/A
rs201408759
+
CDS
AA-STOP[Trp787*]
2583 .. 2583
G/A
rs201391904
+
CDS
Nonsynonymous[Ala818Thr]
2595 .. 2595
G/A
rs200418116
+
CDS
Nonsynonymous[Gly822Ser]
2651 .. 2651
T/C
rs149352680
+
CDS
Synonymous[Phe840Phe]
2750 .. 2750
C/T
rs143630962
+
CDS
Synonymous[Ser873Ser]
2751 .. 2751
G/A
rs114669158
+
CDS
Nonsynonymous[Ala874Thr]
2754 .. 2754
C/T
rs148119281
+
CDS
Nonsynonymous[Arg875Cys]
2759 .. 2759
C/T
rs141873183
+
CDS
Synonymous[Tyr876Tyr]
2762 .. 2762
A/G
rs2233612
+
CDS
Synonymous[Gly877Gly]
2784 .. 2784
G/A
rs116366286
+
CDS
Nonsynonymous[Val885Met]
2797 .. 2797
G/A
rs61749029
+
CDS
Nonsynonymous[Arg889His]
2824 .. 2824
A/G
rs201009079
+
CDS
Nonsynonymous[Asn898Ser]
2840 .. 2840
C/T
rs143362044
+
CDS
Synonymous[Asn903Asn]
2883 .. 2883
G/A
rs200541479
+
CDS
Nonsynonymous[Gly918Ser]
2899 .. 2899
C/T
rs202071188
+
CDS
Nonsynonymous[Ser923Leu]
2918 .. 2918
G/A
rs147534370
+
CDS
Synonymous[Lys929Lys]
2950 .. 2950
C/T
rs201024828
+
3'UTR
2951 .. 2951
G/A
rs2233613
+
3'UTR
3056 .. 3056
G/A
rs76613492
+
3'UTR
3112 .. 3112
T/C
rs115159796
+
3'UTR
3122 .. 3122
C/A
rs191106767
+
3'UTR
3358 .. 3358
C/A
rs146235929
+
3'UTR
3376 .. 3376
G/C
rs4912608
+
3'UTR
3451 .. 3451
T/G
rs148447880
+
3'UTR
3613 .. 3613
G/A
rs142624814
+
3'UTR
3634 .. 3634
T/C
rs113814137
+
3'UTR
3640 .. 3640
C/T
rs150999050
+
3'UTR
3647 .. 3647
T/G
rs187622252
+
3'UTR
3836 .. 3836
A/G
rs192947391
+
3'UTR
3919 .. 3919
T/C
rs140884268
+
3'UTR
3942 .. 3942
G/A
rs111365449
+
3'UTR
4133 .. 4133
A/G
rs78180647
+
3'UTR
4201 .. 4201
G/A
rs185198109
+
3'UTR
4294 .. 4294
C/T
rs147780926
+
3'UTR
4587 .. 4587
C/T
rs141207714
+
3'UTR
4606 .. 4606
G/T
rs189734474
+
3'UTR
4662 .. 4662
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
No data available
Database links
Human-Gene diversity Of Life-style related Diseases(H-GOLD)
;
Related H-InvDB links
VaryGene
;
Repeat Mask Viewer
;