Product Details

SNP ID: rs201155554
Assay Type: Functionally tested
NCBI dbSNP Submissions: 5
Location: Chr.1:119514060 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGTGGAATCTGAAAAACGGCGGCAC[C/T]CTGTACACTTGTGCCTTACGACCCA
Phenotype: MIM: 109715
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: HSD3B1 PubMed Links

Gene Details

Gene: HSD3B1
Gene Name: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000862.2	682	Silent Mutation	ACC,ACT	T179T	NP_000853.1
XM_011541314.2	682	Silent Mutation	ACC,ACT	T181T	XP_011539616.1
XM_017001119.1	682	Silent Mutation	ACC,ACT	T181T	XP_016856608.1