Product Details

SNP ID

rs199633614

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:123722417 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGAAGGAGAGGCCAGCCCTCCTG[C/T]GCCACCCCTGAAACAGGTTCTAGAA

Phenotype

MIM: 611716

Polymorphism

C/T, Transition 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	511	Missense Mutation	GCG,GTG	A88V	NP_036595.2

View Full Product Details