Product Details

SNP ID
rs33932258
Assay Type
Functionally tested
NCBI dbSNP Submissions
10
Location
Chr.1:119422050 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGGTGATACCTTGTACACTTGTGC[A/G]TTAAGACCCACATATATCTATGGGG
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_000198.3 798 Silent Mutation GCA,GCG A183A NP_000189.1
NM_001166120.1 798 Silent Mutation GCA,GCG A183A NP_001159592.1

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