UGT1A1 gene homepage

General information
Gene symbol UGT1A1
Gene name UDP glucuronosyltransferase 1 family, polypeptide A1
Chromosome 2
Chromosomal band q37
Imprinted Unknown
Genomic reference NG_033238.1
Transcript reference NM_000463.2
Exon/intron information NM_000463.2 exon/intron table
Associated with diseases HBLRTFN, Bilirubin, serum level of, quantitative trait locus 1, Crigler-Najjar syndrome, type I, Crigler-Najjar syndrome, type II, Gilbert's syndrome
Citation reference(s) Canu 2013
Refseq URL Genomic reference sequence
Curators (1) Giulia Canu
Total number of public variants reported 69
Unique public DNA variants reported 62
Individuals with public variants 0
Hidden variants 2
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated February 04, 2015
Version UGT1A1:150204

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_000463.2.
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 https://www.LOVD.nl/UGT1A1
HGNC 12530
Entrez Gene 54658
PubMed articles UGT1A1
OMIM - Gene 191740
OMIM - Diseases HBLRTFN (hyperbilirubinemia, familial transient neonatal (Lucey-Driscoll syndrome (HBLRTFN)))
Bilirubin, serum level of, quantitative trait locus 1
Crigler-Najjar syndrome, type I
Crigler-Najjar syndrome, type II
Gilbert's syndrome
HGMD UGT1A1
GeneCards UGT1A1
GeneTests UGT1A1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00022338 2 UDP glucuronosyltransferase 1 family, polypeptide A1 NM_000463.2 NP_000454.1 69


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