The B3GNT1 gene homepage

General information
Gene symbol B3GNT1
Gene name UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1
Chromosome 11
Chromosomal band q13.2
Imprinted Unknown
Genomic reference NG_033202.1
Transcript reference NM_006876.2
Associated with diseases ID, MDDGA-13
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 128
Unique public DNA variants reported 10
Individuals with public variants 35
Hidden variants -
Date created November 30, -0001
Date last updated September 28, 2016
Version B3GNT1:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:15685
Entrez Gene 11041
PubMed articles B3GNT1
OMIM - Gene 605517
OMIM - Diseases MDDGA-13 (dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A13 (MDDGA-13))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00031570 11 Manually created transcript NM_006876.2 - 128