Product Details

SNP ID

rs144828304

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:82035660 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACTTATCTGGCCAAGAATTGTTAC[A/C]TGTGGATCAGAAGGCAGTCCTGGTG

Phenotype

MIM: 109685

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

HSD17B2 PubMed Links

Gene Details

Gene

HSD17B2

Gene Name

hydroxysteroid 17-beta dehydrogenase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002153.2	408	Missense Mutation	CAT,CCT	H79P	NP_002144.1

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