Product Details

SNP ID
rs199700054
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:96398234 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACGCTGTCCAAGCCTGACAGCCCG[C/T]GGCCTGACTTTGCGGTGGAGACGTA
Phenotype
MIM: 615364
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
AK7 PubMed Links

Gene Details

Gene
AK7
Gene Name
adenylate kinase 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152327.3 309 Missense Mutation CGG,TGG R89W NP_689540.2
XM_006720021.2 309 Missense Mutation CGG,TGG R89W XP_006720084.1
XM_006720022.2 309 Missense Mutation CGG,TGG R89W XP_006720085.1
XM_011536403.2 309 Missense Mutation CGG,TGG R89W XP_011534705.1
XM_017020956.1 309 Missense Mutation CGG,TGG R89W XP_016876445.1
XM_017020957.1 309 Missense Mutation CGG,TGG R89W XP_016876446.1
XM_017020958.1 309 Missense Mutation CGG,TGG R89W XP_016876447.1
XM_017020959.1 309 Missense Mutation CGG,TGG R89W XP_016876448.1
XM_017020960.1 309 Missense Mutation CGG,TGG R89W XP_016876449.1

View Full Product Details