Have questions? Visit https://www.reddit.com/r/SNPedia

SRD5A2

From SNPedia

is agene
is mentioned by
Full namesteroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
EntrezGene6716
PheGenI6716
VariationViewer6716
ClinVarSRD5A2
GeneCardsSRD5A2
dbSNP6716
SADR6716
HugeNav6716
wikipediaSRD5A2
googleSRD5A2
gopubmedSRD5A2
EVSSRD5A2
HEFalMpSRD5A2
MyGene2SRD5A2
23andMeSRD5A2
UniProtP31213
OMIM607306
# SNPs29
 Max MagnitudeChromosome positionSummary
rs104893667031,580,823
rs1167529731,568,349
rs121434244031,526,225
rs121434245031,580,737
rs121434246031,533,704
rs121434247031,531,371
rs121434248031,529,326
rs121434249031,529,323
rs121434250031,529,419
rs121434251031,529,313
rs121434252031,529,370
rs121434253031,529,414
rs1247014331,538,488
rs1339564831,567,511
rs220853231,563,919
rs226879731,558,682
rs230070131,561,938
rs373158631,523,958
rs495219731,542,061
rs50856231,612,299
rs523349031,580,636
rs587776566031,531,448
rs587776567031,526,208
rs632148031,580,962
rs67603331,583,901
rs759495131,566,723
rs9282858031,580,756
rs9332964431,529,325
rs9332975031,525,347

[PMID 20349245] Mutations of the SRD5A2 gene leads to an uncommon autosomal recessive disorder affecting sexual differentiation in individuals with 46,XY karyotype; their phenotype can range from almost normal female structures to a distinct male phenotype with ambiguous genitalia at birth. These phenotypes result from impaired conversion of testosterone to dihydrotestosterone due to mutations in the SRD5A2 gene.

Some variations result in abnormal sexual organ development while other variations have no apparent consequences.