Product Details

SNP ID
rs200949351
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:66513779 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAAGGCTGCCTTTGATGAGCCACTC[C/T]TCATGGAGATGGTGAATTGCTTCCA
Phenotype
MIM: 188250
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
TK2 PubMed Links

Gene Details

Gene
TK2
Gene Name
thymidine kinase 2, mitochondrial
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001172643.1 776 Silent Mutation GAA,GAG E186E NP_001166114.1
NM_001172644.1 776 Silent Mutation GAA,GAG E192E NP_001166115.1
NM_001172645.1 776 Silent Mutation GAA,GAG E199E NP_001166116.1
NM_001271934.1 776 Silent Mutation GAA,GAG E168E NP_001258863.1
NM_001271935.1 776 Missense Mutation AAG,AGG K130R NP_001258864.1
NM_001272050.1 776 Silent Mutation GAA,GAG E120E NP_001258979.1
NM_004614.4 776 Silent Mutation GAA,GAG E217E NP_004605.4

View Full Product Details