Product Details

SNP ID
rs34282330
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:119414959 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTAAAGCCAAGACTCTTTATCACA[A/C]TGTGGCCTTAAGATTGGATTTCTCT
Phenotype
MIM: 613890
Polymorphism
A/C, 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 29 Intron NP_000189.1
NM_001166120.1 29 UTR 5 NP_001159592.1

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