Product Details

SNP ID
rs117932049
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:96398192 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCCTCAACCAAAGTGAAGGAAGGC[A/C]CATTCCAGATTGTGGGCACGCTGTC
Phenotype
MIM: 615364
Polymorphism
A/C, Transversion 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_152327.3 267 Missense Mutation ACA,CCA T75P NP_689540.2
XM_006720021.2 267 Missense Mutation ACA,CCA T75P XP_006720084.1
XM_006720022.2 267 Missense Mutation ACA,CCA T75P XP_006720085.1
XM_011536403.2 267 Missense Mutation ACA,CCA T75P XP_011534705.1
XM_017020956.1 267 Missense Mutation ACA,CCA T75P XP_016876445.1
XM_017020957.1 267 Missense Mutation ACA,CCA T75P XP_016876446.1
XM_017020958.1 267 Missense Mutation ACA,CCA T75P XP_016876447.1
XM_017020959.1 267 Missense Mutation ACA,CCA T75P XP_016876448.1
XM_017020960.1 267 Missense Mutation ACA,CCA T75P XP_016876449.1

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