View 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
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 408
Unique public DNA variants reported 163
Individuals with public variants 1387
Hidden variants 7
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 March 25, 2016
Version CYP1B1:160325

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/CYP1B1
External URL Orphanet
Human Cytochrome P450 (CYP)Allele Nomenclature Committee
PharmGKB CYP1B1
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)
HGMD CYP1B1
GeneCards CYP1B1
GeneTests CYP1B1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00005992 2 cytochrome P450, family 1, subfamily B, polypeptide 1 NM_000104.3 NP_000095.2 408


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