Product Details

SNP ID

rs200646099

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:123718686 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGTGAGGTGAAGAGGTGTGAAGAG[A/C]TAGAGCGAATATTGGGTAAGTTTAT

Phenotype

MIM: 611716

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ATP6V0A2 PubMed Links

Gene Details

Gene

ATP6V0A2

Gene Name

ATPase H+ transporting V0 subunit a2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012463.3	429	Missense Mutation	ATA,CTA	I61L	NP_036595.2

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