TK2
From SNPedia
is a | gene |
is | mentioned by |
ClinVar | TK2 |
GeneCards | TK2 |
Diseases | TK2 |
wikipedia | TK2 |
TK2 | |
gopubmed | TK2 |
EVS | TK2 |
HEFalMp | TK2 |
MyGene2 | TK2 |
23andMe | TK2 |
# SNPs | 36 |
Max Magnitude | Chromosome position | Summary | |
---|---|---|---|
rs137854429 | 5 | 66,531,394 | |
rs137854430 | 5 | 66,513,795 | |
rs137854431 | 5 | 66,531,432 | |
rs137854432 | 5 | 66,541,951 | |
rs137886900 | 5 | 66,517,207 | |
rs138439950 | 5 | 66,541,937 | |
rs138479499 | 0 | 66,529,028 | |
rs142291440 | 5 | 66,536,971 | |
rs281865486 | 5 | 66,549,001 | |
rs281865487 | 5 | 66,541,919 | |
rs281865488 | 5 | 66,541,912 | |
rs281865489 | 5 | 66,536,981 | |
rs281865490 | 5 | 66,531,421 | |
rs281865491 | 5 | 66,531,382 | |
rs281865492 | 5 | 66,529,054 | |
rs281865493 | 5 | 66,529,055 | |
rs281865494 | 5 | 66,529,027 | |
rs281865495 | 5 | 66,517,192 | |
rs281865496 | 5 | 66,517,179 | |
rs281865497 | 5 | 66,513,786 | |
rs281865498 | 5 | 66,512,006 | |
rs281865499 | 5 | 66,548,976 | |
rs281865500 | 5 | 66,549,002 | |
rs281865501 | 5 | 66,517,148 | |
rs281865502 | 5 | 66,550,053 | |
rs281865503 | 5 | 66,548,991 | |
rs281865504 | 5 | 66,548,983 | |
rs281865505 | 5 | 66,541,890 | |
rs281865506 | 5 | 66,531,418 | |
rs281865507 | 5 | 66,531,394 | |
rs374777494 | 0 | 66,517,858 | |
rs747276038 | 0 | 66,541,929 | |
rs863224235 | 5 | 66,529,020 | |
rs886039669 | 5 | 66,531,382 | |
rs886041321 | 0 | 66,549,959 | |
rs886041794 | 0 | 66,517,171 |
The TK2 gene is located on chromosome 16 and encodes thymidine kinase 2, a protein that localizes to the mitochondria.
Mutations in the TK2 gene have been linked to two conditions: progressive external ophthalmoplegia and TK2-related mitochondrial depletion syndrome (myopathic form). Both are inherited recessively.