RGD:10044410 Rat Genome Database

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Variant: RGD:10044410 -  Homo sapiens

RGD ID: 10044410
RS ID: rs114704386
ClinVar ID: CV188535
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ8  LOC105369689  LOC124629328  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 21,926,590
GRCh38 12 21,773,656
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_041794.1:g.6166G>A
NC_000012.12:g.21773656C>T
NC_000012.11:g.21926590C>T
NM_004982.2:c.-40G>A
More... 		08/25/2014 5 prime utr variant benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:KCNJ8
Accession:NM_004982
Location:5UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000171004 CLINVAR
dbSNP (RS) rs114704386 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KCNJ8 CLINVAR
OMIM 600935 CLINVAR