Product Details

SNP ID
rs146444610
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:15355174 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCTCCGCTGTGTCCGTGGGGCCT[G/T]CGTCCTCAGCCGGCTCCCCGCTGCT
Phenotype
MIM: 604692
Polymorphism
G/T, Transversion 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 1983 Missense Mutation GAA,GCA E607A NP_005849.1
XM_011527624.2 1983 Missense Mutation GAA,GCA E507A XP_011525926.1
XM_017026141.1 1983 Missense Mutation GAA,GCA E533A XP_016881630.1

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