Product Details

SNP ID

rs76926692

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.4:87310276 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTCAGAAAGATATTGATATACGAT[G/T]GAACAAAAATCATTTTCTTATTGGT

Phenotype

MIM: 612127

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

HSD17B13 PubMed Links

Additional Information

For this assay, SNP(s) [rs62305723] are located under a probe and SNP(s) [rs72613567] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	844	Missense Mutation	CAA,CCA	Q224P	NP_001129702.1
NM_178135.4	844	Missense Mutation	CAA,CCA	Q260P	NP_835236.2

Gene

MIR5705

Gene Name

microRNA 5705

There are no transcripts associated with this gene.

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