Rs9332964

rs9332964 is a nonsynonymous change known as R227Q in the SRD5A2 gene. The SRD5A2 gene encodes steroid 5-alpha-reductase, an enzyme which catalyzes the conversion of testosterone in the body. Polymorphisms in SRD5A2 have been implicated in several disorders of male sexual development such as micropenis. The homozygous rs9332964(A;A) genotype has been observed in several Japenese males with micropenis.