Product Details

SNP ID

rs181018431

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:42460936 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGTGAAGAAATGACACTGGCCCA[A/G]CTTTTTCTACAGTCAGAGGCTGCTT

Phenotype

MIM: 192130

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ATP6V0A1 PubMed Links

Gene Details

Gene

ATP6V0A1

Gene Name

ATPase H+ transporting V0 subunit a1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130020.1	154	Silent Mutation	CAA,CAG	Q14Q	NP_001123492.1
NM_001130021.1	154	Silent Mutation	CAA,CAG	Q14Q	NP_001123493.1
NM_005177.3	154	Silent Mutation	CAA,CAG	Q14Q	NP_005168.2
XM_005257459.1	154	Silent Mutation	CAA,CAG	Q14Q	XP_005257516.1
XM_005257461.1	154	Silent Mutation	CAA,CAG	Q14Q	XP_005257518.1
XM_005257463.2	154	Silent Mutation	CAA,CAG	Q14Q	XP_005257520.1
XM_011524908.1	154	Silent Mutation	CAA,CAG	Q14Q	XP_011523210.1
XM_017024766.1	154	Silent Mutation	CAA,CAG	Q14Q	XP_016880255.1
XM_017024767.1	154	Silent Mutation	CAA,CAG	Q14Q	XP_016880256.1
XM_017024768.1	154	Silent Mutation	CAA,CAG	Q14Q	XP_016880257.1
XM_017024769.1	154	Silent Mutation	CAA,CAG	Q14Q	XP_016880258.1
XM_017024770.1	154	Silent Mutation	CAA,CAG	Q14Q	XP_016880259.1
XM_017024771.1	154	Silent Mutation	CAA,CAG	Q14Q	XP_016880260.1
XM_017024772.1	154	Intron			XP_016880261.1
XM_017024773.1	154	Intron			XP_016880262.1
XM_017024774.1	154	UTR 5			XP_016880263.1

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