The B3GALNT1 gene homepage

General information
Gene symbol B3GALNT1
Gene name beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
Chromosome 3
Chromosomal band q25
Imprinted Unknown
Genomic reference NG_007854.1
Transcript reference NM_001038628.1, NM_003781.3, NM_033167.2, NM_033168.2, NM_033169.2
Associated with diseases blood group P, blood group system, globoside
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 3
Unique public DNA variants reported 1
Individuals with public variants 7
Hidden variants -
Date created November 30, -0001
Date last updated September 20, 2016
Version B3GALNT1:160920

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:918
Entrez Gene 8706
PubMed articles B3GALNT1
OMIM - Gene 603094
OMIM - Diseases blood group P (blood group system, P1PK)
blood group system, globoside


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024866 3 transcript variant 3 NM_033168.2 NP_149358.1 3
00024867 3 transcript variant 1 NM_003781.3 NP_003772.1 3
00024868 3 transcript variant 2 NM_033167.2 NP_149357.1 3
00024869 3 transcript variant 5 NM_001038628.1 NP_001033717.1 3
00024870 3 transcript variant 4 NM_033169.2 NP_149359.1 3