Product Details

SNP ID: rs6211
Assay Type: Functionally tested
NCBI dbSNP Submissions: 17
Location: Chr.1:119419555 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TGATGTCTTTGGTGTCACTCACAGA[C/G]AGTCCATCATGAATGTCAATGTGAA
Phenotype: MIM: 613890
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: HSD3B2 PubMed Links

Gene Details

Gene: HSD3B2
Gene Name: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000198.3	529	Missense Mutation	CAG,GAG	Q94E	NP_000189.1
NM_001166120.1	529	Missense Mutation	CAG,GAG	Q94E	NP_001159592.1