RGD:9681806 Rat Genome Database

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Variant: RGD:9681806 -  Homo sapiens

RGD ID: 9681806
RS ID: rs606231264
ClinVar ID: CV167408
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ8  LOC105369689  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 21,919,406
GRCh38 12 21,766,472
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.12:g.21766472A>T
NC_000012.11:g.21919406A>T
NP_004973.1:p.Cys176Ser
NG_041794.1:g.13350T>A
More... 		11/06/2014 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:KCNJ8
Accession:NM_004982
Location:EXON
Amino Acid Prediction: C to S (nonsynonymous)
Amino Acid Position: 176
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLARKSIIPEEYVLARIAAENLRKPRIRDRLPKARFIAKSGACNLAHKNIREQGRFLQDIFTTLVDLKWRHTLVIFTMSF
LCSWLLFAIMWWLVAFAHGDIYAYMEKSGMEKSGLESTVCVTNVRSFTSAFLFSIEVQVTIGFGGRMMTEECPLAITVLI
LQNIVGLIINAVMLGSIFMKTAQAHRRAETLIFSRHAVIAVRNGKLCFMFRVGDLRKSMIISASVRIQVVKKTTTPEGEV
VPIHQLDIPVDNPIESNNIFLVAPLIICHVIDKRSPLYDISATDLANQDLEVIVILEGVVETTGITTQARTSYIAEEIQW
GHRFVSIVTEEEGVYSVDYSKFGNTVKVAAPRCSARELDEKPSILIQTLQKSELSHQNSLRKRNSMRRNNSMRRNNSIRR
NNSSLMVPKVQFMTPEGNQNTSES*

Gene Symbol:LOC105369689
Accession:XR_007063241
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:12210352   PMID:22608503   PMID:24700710  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000144890 CLINVAR
dbSNP (RS) rs606231264 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene KCNJ8 CLINVAR
OMIM 600935 CLINVAR
OMIM Allele 600935.0003 CLINVAR