The B3GAT3 gene homepage

General information
Gene symbol B3GAT3
Gene name beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)
Chromosome 11
Chromosomal band q12
Imprinted Unknown
Genomic reference NG_031863.1
Transcript reference NM_012200.3
Exon/intron information NM_012200.3 exon/intron table
Associated with diseases JDSSCDHD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 53
Unique public DNA variants reported 41
Individuals with public variants 6
Hidden variants 10
Date created May 03, 2013
Date last updated February 08, 2021
Version B3GAT3:210208

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_012200.3.
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
HGNC 923
Entrez Gene 26229
PubMed articles B3GAT3
OMIM - Gene 606374
OMIM - Diseases JDSSCDHD (joint dislocations, multiple, short stature, craniofacial dysmorphism, congenital heart defects (JDSSCDHD))
GeneCards B3GAT3
GeneTests B3GAT3
Orphanet B3GAT3

Active transcripts




NCBI ID     

NCBI Protein ID     

00003212 11 beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) NM_012200.3 NP_036332.2 53

Copyright & disclaimer
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