Product Details

SNP ID: rs11553344
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.X:40589038 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TAAAATCACCAGGGTCTGTTGTTTT[A/C]CGAAATGGAAATTGGCCTATACCAG
Phenotype: MIM: 300556
Polymorphism: A/C, Transversion substitution
Allele Nomenclature
Literature Links: ATP6AP2 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005765.2	192	Missense Mutation	TTA,TTC	L30F	NP_005756.2