SRD5A2
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) |
| EntrezGene | 6716 |
| PheGenI | 6716 |
| VariationViewer | 6716 |
| ClinVar | SRD5A2 |
| GeneCards | SRD5A2 |
| dbSNP | 6716 |
| Diseases | SRD5A2 |
| SADR | 6716 |
| HugeNav | 6716 |
| wikipedia | SRD5A2 |
| SRD5A2 | |
| gopubmed | SRD5A2 |
| EVS | SRD5A2 |
| HEFalMp | SRD5A2 |
| MyGene2 | SRD5A2 |
| 23andMe | SRD5A2 |
| UniProt | P31213 |
| OMIM | 607306 |
| # SNPs | 38 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs104893667 | 0 | 31,580,823 | |
| rs1057517829 | 0 | 31,531,376 | |
| rs1057519061 | 0 | 31,529,466 | |
| rs1057519091 | 0 | 31,529,311 | |
| rs1060499834 | 0 | 31,580,690 | |
| rs11675297 | 0 | 31,568,349 | |
| rs121434244 | 0 | 31,526,225 | |
| rs121434245 | 0 | 31,580,737 | |
| rs121434246 | 0 | 31,533,704 | |
| rs121434247 | 0 | 31,531,371 | |
| rs121434248 | 0 | 31,529,326 | |
| rs121434249 | 0 | 31,529,323 | |
| rs121434250 | 0 | 31,529,419 | |
| rs121434251 | 0 | 31,529,313 | |
| rs121434252 | 0 | 31,529,370 | |
| rs121434253 | 0 | 31,529,414 | |
| rs12470143 | 0 | 31,538,488 | |
| rs13395648 | 0 | 31,567,511 | |
| rs191031841 | 0 | 31,561,411 | |
| rs2208532 | 0 | 31,563,919 | |
| rs2268797 | 0 | 31,558,682 | |
| rs2300701 | 0 | 31,561,938 | |
| rs368386747 | 0 | 31,533,671 | |
| rs3731586 | 0 | 31,523,958 | |
| rs4952197 | 0 | 31,542,061 | |
| rs508562 | 0 | 31,612,299 | |
| rs523349 | 0 | 31,580,636 | |
| rs559555 | 0 | 31,585,905 | |
| rs587776566 | 0 | 31,531,448 | |
| rs587776567 | 0 | 31,526,208 | |
| rs612224 | 0 | 31,586,801 | |
| rs632148 | 0 | 31,580,962 | |
| rs676033 | 0 | 31,583,901 | |
| rs7594951 | 0 | 31,566,723 | |
| rs886039748 | 0 | 31,580,899 | |
| rs9282858 | 0 | 31,580,756 | |
| rs9332964 | 4 | 31,529,325 | |
| rs9332975 | 0 | 31,525,347 |
[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.
