Product Details

SNP ID

rs201216602

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:154432285 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCAGAATGCCCTGGACCTGGCCC[C/G]CTCCTCACTGGTGCTTCCTGCCGTC

Phenotype

MIM: 300197 MIM: 300104

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ATP6AP1 PubMed Links

Gene Details

Gene

ATP6AP1

Gene Name

ATPase H+ transporting accessory protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001183.5	774	Missense Mutation	CCC,CGC	P128R	NP_001174.2
XM_011531179.1	774	UTR 5			XP_011529481.1

Gene

CH17-340M24.3

Gene Name

uncharacterized protein BC009467

There are no transcripts associated with this gene.

Gene

GDI1

Gene Name

GDP dissociation inhibitor 1

There are no transcripts associated with this gene.

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