The B3GALNT2 gene homepage

General information
Gene symbol B3GALNT2
Gene name beta-1,3-N-acetylgalactosaminyltransferase 2
Chromosome 1
Chromosomal band q42.3
Imprinted Unknown
Genomic reference NG_033219.1
Transcript reference NM_001277155.2, NM_152490.2, XM_005273071.2
Associated with diseases ID, MDDGA-11
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 110
Unique public DNA variants reported 13
Individuals with public variants 35
Hidden variants 9
Date created November 30, -0001
Date last updated September 28, 2016
Version B3GALNT2:160928

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:28596
Entrez Gene 148789
PubMed articles B3GALNT2
OMIM - Gene 610194
OMIM - Diseases MDDGA-11 (dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A11 (MDDGA-11))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00015850 1 Manually created transcript. (expired, new version available) NM_152490.2 - 110
00032869 1 transcript variant 2 NM_001277155.2 NP_001264084.1 102
00032868 1 transcript variant X1 XM_005273071.2 XP_005273128.1 -