Product Details

SNP ID
rs137962338
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:119903297 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACAAAGCCGCAAGCCAAACAATGC[C/T]GAATACACAAGACAAGAACTACGAG
Phenotype
MIM: 300462
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
AKAP14 PubMed Links

Gene Details

Gene
AKAP14
Gene Name
A-kinase anchoring protein 14
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001008534.1 212 Missense Mutation CCG,CTG P25L NP_001008534.1
NM_001008535.1 212 Missense Mutation CCG,CTG P25L NP_001008535.1
NM_178813.5 212 Missense Mutation CCG,CTG P25L NP_848928.1

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