Product Details

SNP ID

rs2066479

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.9:96235528 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

GTCAGGAGCAGCCTTTGGAAGGCAC[C/T]GCTGTAGAAGGCCCAGGCCGGGATC

Phenotype

MIM: 605573

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HSD17B3 PubMed Links

Gene Details

Gene

HSD17B3

Gene Name

hydroxysteroid 17-beta dehydrogenase 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000197.1	3297	Missense Mutation	CGT,TGT	R289C	NP_000188.1
XM_011518618.2	3297	Missense Mutation	CGT,TGT	R289C	XP_011516920.1
XM_011518619.2	3297	Missense Mutation	CGT,TGT	R289C	XP_011516921.1
XM_017014671.1	3297	Missense Mutation	CGT,TGT	R289C	XP_016870160.1
XM_017014672.1	3297	Missense Mutation	CGT,TGT	R289C	XP_016870161.1
XM_017014673.1	3297	Missense Mutation	CGT,TGT	R277C	XP_016870162.1
XM_017014674.1	3297	Missense Mutation	CGT,TGT	R253C	XP_016870163.1
XM_017014675.1	3297	Missense Mutation	CGT,TGT	R235C	XP_016870164.1
XM_017014676.1	3297	Intron			XP_016870165.1
XM_017014677.1	3297	Missense Mutation	CGT,TGT	R169C	XP_016870166.1

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