The B3GALT6 gene homepage

General information
Gene symbol B3GALT6
Gene name UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
Chromosome 1
Chromosomal band p36.33
Imprinted Unknown
Genomic reference NG_033265.1
Transcript reference NM_080605.3
Associated with diseases SEMDJL-1, Ehlers-Danlos syndrome, progeroid type, 2
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 39
Unique public DNA variants reported 8
Individuals with public variants 33
Hidden variants -
Date created November 30, -0001
Date last updated September 28, 2016
Version B3GALT6:160928

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:17978
Entrez Gene 126792
PubMed articles B3GALT6
OMIM - Gene 615291
OMIM - Diseases SEMDJL-1 (dysplasia, spondyloepimetaphyseal, with joint laxity (SEMDJL-1))
Ehlers-Danlos syndrome, progeroid type, 2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00020780 1 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 NM_080605.3 NP_542172.2 39