RGD:15126198 Rat Genome Database

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Variant: RGD:15126198 -  Homo sapiens

RGD ID: 15126198
RS ID: rs749231118
ClinVar ID: CV743802
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAB3GAP1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 135,851,273
GRCh38 2 135,093,703
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001172435.2:c.362+10T>G
NM_012233.3:c.362+10T>G
NG_016972.1:g.46439T>G
NC_000002.12:g.135093703T>G
More... 		12/04/2017 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:RAB3GAP1
Accession:NM_012233
Location:INTRON

Gene Symbol:RAB3GAP1
Accession:XM_011510823
Location:INTRON

Gene Symbol:RAB3GAP1
Accession:XM_011510825
Location:INTRON

Gene Symbol:RAB3GAP1
Accession:XM_047443732
Location:INTRON

Gene Symbol:RAB3GAP1
Accession:NM_001172435
Location:INTRON

Gene Symbol:RAB3GAP1
Accession:XR_001738674
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000896894 CLINVAR
dbSNP (RS) rs749231118 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene RAB3GAP1 CLINVAR
OMIM 602536 CLINVAR