Product Details

SNP ID

rs145376537

Assay Type

Functionally tested

NCBI dbSNP Submissions

7

Location

Chr.1:119514055 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAACGGGTGGAATCTGAAAAACGGC[A/G]GCACCCTGTACACTTGTGCCTTACG

Phenotype

MIM: 109715

Polymorphism

A/G, 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	677	Missense Mutation	AGC,GGC	S178G	NP_000853.1
XM_011541314.2	677	Missense Mutation	AGC,GGC	S180G	XP_011539616.1
XM_017001119.1	677	Missense Mutation	AGC,GGC	S180G	XP_016856608.1

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