Product Details

SNP ID
rs139907510
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:15354974 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAGTTTGTTCCACTTCAGCATCCG[C/T]GGCAGCTGGGGCAGGAGCAACTCTG
Phenotype
MIM: 604692
Polymorphism
C/T, 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 2183 Missense Mutation ACG,GCG T674A NP_005849.1
XM_011527624.2 2183 Missense Mutation ACG,GCG T574A XP_011525926.1
XM_017026141.1 2183 Missense Mutation ACG,GCG T600A XP_016881630.1

View Full Product Details