CYP1B1 gene homepage

General information
Gene symbol CYP1B1
Gene name cytochrome P450, family 1, subfamily B, polypeptide 1
Chromosome 2
Chromosomal band p22.2
Imprinted Unknown
Genomic reference NG_008386.1
Transcript reference NM_000104.3
Exon/intron information NM_000104.3 exon/intron table
Associated with diseases GLC-3A, GLC-3B, Peters
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 443
Unique public DNA variants reported 168
Individuals with public variants 1473
Hidden variants 7
Download all this gene's data Download all data
Notes CYP1B1 reference haplotypes
Haplotypes are assigned by the Human Cytochrome P450 (CYP) Allele Nomenclature Committee; current CYP1B1 list
Date created April 29, 2010
Date last updated December 08, 2018
Version CYP1B1:181208

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_000104.3.
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
External URL Orphanet
Human Cytochrome P450 (CYP)Allele Nomenclature Committee
HGNC 2597
Entrez Gene 1545
PubMed articles CYP1B1
OMIM - Gene 601771
OMIM - Diseases GLC-3A (glaucoma, congenital, primary, type 3A (GLC-3A))
GLC-3B (glaucoma, congenital, primary infantile, type 3B (GLC-3B))
Peters (Peters anomaly)
GeneCards CYP1B1
GeneTests CYP1B1

Active transcripts




NCBI ID     

NCBI Protein ID     

00005992 2 cytochrome P450, family 1, subfamily B, polypeptide 1 NM_000104.3 NP_000095.2 443

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