Product Details

SNP ID

rs1802462

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:75038949 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTCAATTTTATAAATTCTCAATTG[T/G]TTGGTGAGGCCAATAGGGATACTTT

Phenotype

MIM: 613422

Polymorphism

T/G, Transversion Substitution

Allele Nomenclature

Literature Links

ATP5H PubMed Links

Additional Information

For this assay, SNP(s) [rs6968] 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

ATP5H

Gene Name

ATP synthase, H+ transporting, mitochondrial Fo complex subunit D

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001003785.1		Intron			NP_001003785.1
NM_006356.2		Intron			NP_006347.1

Gene

KCTD2

Gene Name

potassium channel tetramerization domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015353.2		Intron			NP_056168.1
XM_011524575.2		Intron			XP_011522877.1

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