Product Details

SNP ID

rs188763652

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:56746087 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTCAACTATCCCAGAACGTACTGC[A/C]GAAGACAGTTTTCTAACTGATTCAT

Phenotype

MIM: 606623 MIM: 176635

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

HSD17B6 PubMed Links

Gene Details

Gene

HSD17B6

Gene Name

hydroxysteroid 17-beta dehydrogenase 6

There are no transcripts associated with this gene.

Gene

PRIM1

Gene Name

primase (DNA) subunit 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000946.2	601	Silent Mutation	TCG,TCT	S179S	NP_000937.1

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