CYP27B1 gene homepage

General information
Gene symbol CYP27B1
Gene name cytochrome P450, family 27, subfamily B, polypeptide 1
Chromosome 12
Chromosomal band q13.3-q14
Imprinted Unknown
Genomic reference NG_007076.1
Transcript reference NM_000785.3
Exon/intron information NM_000785.3 exon/intron table
Associated with diseases VDDR-1A
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Arnaud Molin
Total number of public variants reported 6
Unique public DNA variants reported 5
Individuals with public variants 0
Hidden variants 4
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 July 02, 2020
Version CYP27B1:200702

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_000785.3.
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 2606
Entrez Gene 1594
PubMed articles CYP27B1
OMIM - Gene 609506
OMIM - Diseases VDDR-1A (vitamin D-dependent rickets, type 1A (VDDR-1A))
GeneCards CYP27B1
GeneTests CYP27B1

Active transcripts




NCBI ID     

NCBI Protein ID     

00006051 12 cytochrome P450, family 27, subfamily B, polypeptide 1 NM_000785.3 NP_000776.1 6

Copyright & disclaimer
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