Product Details

SNP ID
rs9014
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:40591333 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GGGAGTGAACAAACTGGCTCTACCC[C/G]CAGGCAGTGTCATTTCGTACCCTTT
Phenotype
MIM: 300556
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ATP6AP2 PubMed Links

Gene Details

Gene
ATP6AP2
Gene Name
ATPase H+ transporting accessory protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005765.2 370 Missense Mutation CCA,GCA P90A NP_005756.2

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