The CYP7B1 gene homepage

General information
Gene symbol CYP7B1
Gene name cytochrome P450, family 7, subfamily B, polypeptide 1
Chromosome 8
Chromosomal band q21.3
Imprinted Unknown
Genomic reference NG_008338.1
Transcript reference NM_004820.3
Exon/intron information NM_004820.3 exon/intron table
Associated with diseases CBAS3, SPG5A
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 45
Unique public DNA variants reported 36
Individuals with public variants 228
Hidden variants 2
Download all this gene's data Download all data
Date created May 03, 2013
Date last updated May 09, 2022
Version CYP7B1:220509

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_004820.3.
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 2652
Entrez Gene 9420
PubMed articles CYP7B1
OMIM - Gene 603711
OMIM - Diseases CBAS3 (bile acid synthesis defect, congenital, type 3 (CBAS-3))
SPG5A (paraplegia, spastic, autosomal recessive, type 5A (SPG-5A))
GeneCards CYP7B1
GeneTests CYP7B1
Orphanet CYP7B1

Active transcripts




NCBI ID     

NCBI Protein ID     

00006035 8 cytochrome P450, family 7, subfamily B, polypeptide 1 NM_004820.3 NP_004811.1 45

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