RGD:11588875 Rat Genome Database

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Variant: RGD:11588875 -  Homo sapiens

RGD ID: 11588875
RS ID: rs113138427
ClinVar ID: CV287001
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GFPT1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 69,547,967
GRCh38 2 69,320,835
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_787:g.71416G>A
NG_029542.1:g.71416G>A
NC_000002.12:g.69320835C>T
NC_000002.11:g.69547967C>T
More... 		06/14/2016 3 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GFPT1
Accession:NM_002056
Location:3UTRS;EXON

Gene Symbol:GFPT1
Accession:XM_017003801
Location:3UTRS;EXON

Gene Symbol:GFPT1
Accession:XM_017003802
Location:3UTRS;EXON

Gene Symbol:GFPT1
Accession:NM_001244710
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000306303 CLINVAR
dbSNP (RS) rs113138427 CLINVAR
MedGen CN239337 CLINVAR
NCBI Gene GFPT1 CLINVAR
OMIM 138292 CLINVAR