Product Details

SNP ID

rs144499089

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:123724668 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTGTTTTAGGAGCAGTTGCAGAA[G/T]CTCGAGGTTGAACTGAGAGAAGTCA

Phenotype

MIM: 611716

Polymorphism

G/T, 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	557	Missense Mutation	AAG,AAT	K103N	NP_036595.2

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