Product Details

SNP ID

rs56247447

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.4:99339589 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTTAAAATCTACCTCTTTCCAGAG[C/T]GAAGCAGGTCAAATCCTTCATTTAT

Phenotype

MIM: 103730

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

ADH1C PubMed Links

Additional Information

For this assay, SNP(s) [rs2903199,rs79904659] 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

ADH1C

Gene Name

alcohol dehydrogenase 1C (class I), gamma polypeptide

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000669.4	1251	Missense Mutation	CAC,CGC	H364R	NP_000660.1
XM_011531588.2	1251	Missense Mutation	CAC,CGC	H330R	XP_011529890.1
XM_011531589.1	1251	Missense Mutation	CAC,CGC	H324R	XP_011529891.1

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