RGD:150491649 Rat Genome Database

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Variant: RGD:150491649 -  Homo sapiens

RGD ID: 150491649
RS ID: rs8179219
ClinVar ID: CV1267810
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCKR  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 27,730,817
GRCh38 2 27,507,950
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001486.4:c.1241-27G>A
NG_028024.1:g.16112G>A
NC_000002.12:g.27507950G>A
NC_000002.11:g.27730817G>A
 11/17/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GCKR
Accession:XM_017003797
Location:INTRON

Gene Symbol:GCKR
Accession:NM_001486
Location:INTRON

Gene Symbol:GCKR
Accession:XM_011532763
Location:INTRON

Gene Symbol:GCKR
Accession:XM_017003796
Location:INTRON

Gene Symbol:GCKR
Accession:XR_001738699
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001687835 CLINVAR
dbSNP (RS) rs8179219 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GCKR CLINVAR
OMIM 600842 CLINVAR