Product Details

SNP ID

rs141836259

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:87305294 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATACGATTTAAAATCGCTGAGGCG[C/T]GTTCAGGAAGAAACCTGTACAAAAA

Phenotype

MIM: 612127

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HSD17B13 PubMed Links

Gene Details

Gene

HSD17B13

Gene Name

hydroxysteroid 17-beta dehydrogenase 13

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136230.2	892	Missense Mutation	CAC,CGC	H240R	NP_001129702.1
NM_178135.4	892	Missense Mutation	CAC,CGC	H276R	NP_835236.2

Gene

MIR5705

Gene Name

microRNA 5705

There are no transcripts associated with this gene.

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