Product Details

SNP ID
rs200241726
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:15355252 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TACGGCCCTCACTGCTGCTGTAATC[A/G]CCTCTGCTAAGACGTCCGCGGCCAC
Phenotype
MIM: 604692
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AKAP8 PubMed Links

Gene Details

Gene
AKAP8
Gene Name
A-kinase anchoring protein 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005858.3 1905 Missense Mutation GCG,GTG A581V NP_005849.1
XM_011527624.2 1905 Missense Mutation GCG,GTG A481V XP_011525926.1
XM_017026141.1 1905 Missense Mutation GCG,GTG A507V XP_016881630.1

View Full Product Details