CYP27A1 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol CYP27A1
Gene name cytochrome P450, family 27, subfamily A, polypeptide 1
Chromosome 2
Chromosomal band q35
Imprinted Unknown
Genomic reference NC_000002.11
Transcript reference NM_000784.3
Associated with diseases -
Citation reference(s) -
Curators (0) -
Total number of public variants reported 5
Unique public DNA variants reported 5
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 12, 2013

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
HGMD CYP27A1
GeneCards CYP27A1
GeneTests CYP27A1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000689 2 cytochrome P450, family 27, subfamily A, polypeptide 1 NM_000784.3 NP_000775.1 5


Copyright & disclaimer
; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium