View B3GLCT gene homepage

NOTE: the name of this gene was recently changed from B3GALTL to B3GLCT.
General information
Gene symbol B3GLCT
Gene name beta 3-glucosyltransferase
Chromosome 13
Chromosomal band q12.3
Imprinted Unknown
Genomic reference NG_011732.1
Transcript reference NM_194318.3
Exon/intron information NM_194318.3
Associated with diseases Peters-plus syndrome
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Martine van Belzen and Johan den Dunnen
Total number of public variants reported 112
Unique public DNA variants reported 42
Individuals with public variants 63
Hidden variants 17
Notes NOTE: the name of this gene was recently changed from B3GALTL to B3GLCT.
Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created May 01, 2012
Date last updated August 28, 2015
Version B3GLCT:150828

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
Homepage URL http://www.LOVD.nl/B3GLCT
HGNC 20207
Entrez Gene 145173
PubMed articles B3GLCT
OMIM - Gene 610308
OMIM - Diseases Peters-plus syndrome
HGMD B3GLCT
GeneCards B3GLCT
GeneTests B3GLCT


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024044 13 beta 1,3-galactosyltransferase-like NM_194318.3 NP_919299.3 112


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