rs114871595 Rat Genome Database

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Variant: rs114871595 -  Homo sapiens

RGD ID: 150535081
RS ID: rs114871595
ClinVar ID: CV1311768
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B4GALT1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 33,115,854
GRCh38 9 33,115,856
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001378497.1:c.649-11075G>A
NM_001378496.1:c.837-1978G>A
NM_001378495.1:c.920+135G>A
NM_001497.4:c.959+135G>A
More...
05/10/2021 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:B4GALT1
Accession:XM_047423231
Location:INTRON

Gene Symbol:B4GALT1
Accession:NM_001378497
Location:INTRON

Gene Symbol:B4GALT1
Accession:NM_001497
Location:INTRON

Gene Symbol:B4GALT1
Accession:NM_001378496
Location:INTRON

Gene Symbol:B4GALT1
Accession:XM_047423232
Location:INTRON

Gene Symbol:B4GALT1
Accession:NM_001378495
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001779578 CLINVAR
dbSNP (RS) rs114871595 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene B4GALT1 CLINVAR
OMIM 137060 CLINVAR