The CYP27A1 gene homepage

General information
Gene symbol CYP27A1
Gene name cytochrome P450, family 27, subfamily A, polypeptide 1
Chromosome 2
Chromosomal band q33-qter
Imprinted Unknown
Genomic reference NG_007959.1
Transcript reference NM_000784.3
Associated with diseases xanthomatosis, cerebrotendinous
Citation reference(s) -
Curators (1) Pablo Sierra
Total number of public variants reported 347
Unique public DNA variants reported 176
Individuals with public variants 257
Hidden variants 20
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated May 24, 2021
Version CYP27A1:210524

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
HGNC 2605
Entrez Gene 1593
PubMed articles CYP27A1
OMIM - Gene 606530
OMIM - Diseases xanthomatosis, cerebrotendinous
HGMD CYP27A1
GeneCards CYP27A1
GeneTests CYP27A1
Orphanet CYP27A1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000145 2 cytochrome P450, family 27, subfamily A, polypeptide 1 NM_000784.3 NP_000775.1 347


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