Product Details

SNP ID

rs200212806

Assay Type

Functionally Tested

NCBI dbSNP Submissions

3

Location

Chr.1:119422221 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACATTCTGGCCTTGAGGGCTCTGCG[A/G]GACCCCAAGAAGGCCCCAAGTGTCC

Phenotype

MIM: 613890

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

HSD3B2 PubMed Links

Additional Information

For this assay, SNP(s) [rs33926546] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	969	Silent Mutation	CGA,CGG	R240R	NP_000189.1
NM_001166120.1	969	Silent Mutation	CGA,CGG	R240R	NP_001159592.1

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