Product Details

SNP ID

rs138228830

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:87340602 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTTCCTCAGGTTCCAGAGTGGGTC[A/C]CAAACTGAAATCAGAGTCAGTCTTC

Phenotype

MIM: 612831

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

HSD17B11 PubMed Links

Gene Details

Gene

HSD17B11

Gene Name

hydroxysteroid 17-beta dehydrogenase 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016245.4	933	Nonsense Mutation	GGA,TGA	G234*	NP_057329.3
XM_011532021.1	933	Intron			XP_011530323.1

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