The SRD5A1 gene homepage

General information
Gene symbol SRD5A1
Gene name steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)
Chromosome 5
Chromosomal band p15.31
Imprinted Unknown
Genomic reference NC_000005.9
Transcript reference NM_001047.2
Associated with diseases -
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 167
Unique public DNA variants reported 16
Individuals with public variants 35
Hidden variants 2
Date created October 30, 2013
Date last updated September 28, 2016
Version SRD5A1:160928

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:11284
Entrez Gene 6715
PubMed articles SRD5A1
OMIM - Gene 184753
HGMD SRD5A1
GeneCards SRD5A1
GeneTests SRD5A1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00007556 5 steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) NM_001047.2 NP_001038.1 167


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