RGD:11657091 Rat Genome Database

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Variant: RGD:11657091 -  Homo sapiens

RGD ID: 11657091
ClinVar ID: CV312553
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B4GALT1  LOC127814616  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 33,112,115
GRCh38 9 33,112,117
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001497.3:c.*1337C>G
NG_008919.1:g.60242C>G
NC_000009.12:g.33112117G>C
NC_000009.11:g.33112115G>C
 06/14/2016 3 prime utr variant uncertain significance Carbohydrate-deficient glycoprotein syndrome

Variant Details
Variant Transcripts
Gene Symbol:B4GALT1
Accession:NM_001378496
Location:3UTRS;EXON

Gene Symbol:B4GALT1
Accession:NM_001497
Location:3UTRS;EXON

Gene Symbol:B4GALT1
Accession:NM_001378495
Location:3UTRS;EXON

Gene Symbol:B4GALT1
Accession:XM_047423231
Location:3UTRS;EXON

Gene Symbol:B4GALT1
Accession:XM_047423232
Location:3UTRS;EXON

Gene Symbol:B4GALT1
Accession:NM_001378497
Location:INTRON

Variant Samples