Product Details

SNP ID

rs146892048

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:154439082 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAAGGTGGTGGAGGGCAGCTTTGT[C/T]TACAAGGGGGGCAAGATCTACAAAG

Phenotype

MIM: 300197 MIM: 300453 MIM: 300104

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATP6AP1 PubMed Links

Gene Details

Gene

ATP6AP1

Gene Name

ATPase H+ transporting accessory protein 1

There are no transcripts associated with this gene.

Gene

FAM50A

Gene Name

family with sequence similarity 50 member A

There are no transcripts associated with this gene.

Gene

GDI1

Gene Name

GDP dissociation inhibitor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001493.2	672	Silent Mutation	GTC,GTT	V110V	NP_001484.1

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