Product Details

SNP ID: rs4986954
Assay Type: Functionally tested
NCBI dbSNP Submissions: 22
Location: Chr.1:119419495 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: GCCATTCCTGAAAAGAGCCTGCCAG[A/G]ACGTCTCGGTCGTCATCCACACCGC
Phenotype: MIM: 613890
Polymorphism: A/G, Transition 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	469	Missense Mutation	AAC,GAC	N74D	NP_000189.1
NM_001166120.1	469	Missense Mutation	AAC,GAC	N74D	NP_001159592.1