Product Details

SNP ID

rs7622403

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:113753587 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGTATTGTTATGTAAATTATGGCC[A/G]AGGCATTTTATGGAATGTTGTGAAG

Phenotype

MIM: 607027 MIM: 610834

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ATP6V1A PubMed Links

Gene Details

Gene

ATP6V1A

Gene Name

ATPase H+ transporting V1 subunit A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001690.3		Intron			NP_001681.2

Gene

NAA50

Gene Name

N(alpha)-acetyltransferase 50, NatE catalytic subunit

There are no transcripts associated with this gene.

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