View gene CYP21A2

General information
Gene symbol CYP21A2
Gene name cytochrome P450, family 21, subfamily A, polypeptide 2
Chromosome 6
Chromosomal band p21.3
Imprinted Unknown
Genomic reference NG_007941.2
Transcript reference NM_000500.7
Exon/intron information NM_000500.7
Associated with diseases 21-hydroxylase deficiency
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Martina Witsch-Baumgartner
Total number of public variants reported 23
Unique public DNA variants reported 5
Individuals with public variants 23
Hidden variants 96
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 October 31, 2015
Version CYP21A2:151031

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/CYP21A2
External URL Orphanet
HGNC 2600
Entrez Gene 1589
PubMed articles CYP21A2
OMIM - Gene 613815
OMIM - Diseases 21-hydroxylase deficiency
HGMD CYP21A2
GeneCards CYP21A2
GeneTests CYP21A2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023942 6 transcript variant 1 NM_000500.7 NP_000491.4 119


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