Product Details

SNP ID

rs201566804

Assay Type

Functionally Tested

NCBI dbSNP Submissions

5

Location

Chr.1:119511618 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCATCCACACCGCCTGTATCATTGA[C/T]GTCTTCGGTGTCACTCACAGAGAGT

Phenotype

MIM: 109715

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

HSD3B1 PubMed Links

Additional Information

For this assay, SNP(s) [rs6202] are located under a probe and SNP(s) [rs6200] 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

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	406	Silent Mutation	GAC,GAT	D87D	NP_000853.1
XM_011541314.2	406	Silent Mutation	GAC,GAT	D89D	XP_011539616.1
XM_017001119.1	406	Silent Mutation	GAC,GAT	D89D	XP_016856608.1

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