| Entrez Gene ID | 27010 |
|---|---|
| Official Gene Symbol | TPK1 (GeneCards) |
| Full name | thiamin pyrophosphokinase 1 |
| Location | 7q35 |
| Other ids | Vega : OTTHUMG00000152774 MIM : 606370 HGNC : HGNC:17358 Ensembl : ENSG00000196511 |
| Other names | PP20, HTPK1, THMD5 |
| Summary | The protein encoded by this gene functions as a homodimer and catalyzes the conversion of thiamine to thiamine pyrophosphate, a cofactor for some enzymes of the glycolytic and energy production pathways. Defects in this gene are a cause of thiamine metabolism dysfunction syndrome-5. [provided by RefSeq, Apr 2017] |
Found 27 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 10399 | 27010 | TPK1 | 7 | 144689258 | 144689258 | Asymptomatic | HiSeq X Ten |
| 10413 | 27010 | TPK1 | 7 | 144929210 | 144929210 | Asymptomatic | HiSeq X Ten |
| 10483 | 27010 | TPK1 | 7 | 145378973 | 145378973 | Asymptomatic | HiSeq X Ten |
| 10490 | 27010 | TPK1 | 7 | 144718551 | 144718551 | Asymptomatic | HiSeq X Ten |
| 10500 | 27010 | TPK1 | 7 | 145350952 | 145350952 | Asymptomatic | HiSeq X Ten |
| 10636 | 27010 | TPK1 | 7 | 145157024 | 145157024 | Asymptomatic | HiSeq X Ten |
| 10671 | 27010 | TPK1 | 7 | 144819652 | 144819652 | Asymptomatic | HiSeq X Ten |
| 10683 | 27010 | TPK1 | 7 | 144886589 | 144886589 | Asymptomatic | HiSeq X Ten |
| 10705 | 27010 | TPK1 | 7 | 145280796 | 145280796 | Asymptomatic | HiSeq X Ten |
| 10733 | 27010 | TPK1 | 7 | 144868949 | 144868949 | Asymptomatic | HiSeq X Ten |
| 10840 | 27010 | TPK1 | 7 | 144814264 | 144814264 | Asymptomatic | HiSeq X Ten |
| 10841 | 27010 | TPK1 | 7 | 145238573 | 145238573 | Asymptomatic | HiSeq X Ten |
| 10925 | 27010 | TPK1 | 7 | 145582557 | 145582557 | Asymptomatic | HiSeq X Ten |
| 10926 | 27010 | TPK1 | 7 | 145750429 | 145750429 | Asymptomatic | HiSeq X Ten |
| 10943 | 27010 | TPK1 | 7 | 145190335 | 145190335 | Asymptomatic | HiSeq X Ten |
| 10944 | 27010 | TPK1 | 7 | 145309255 | 145309255 | Asymptomatic | HiSeq X Ten |
| 10967 | 27010 | TPK1 | 7 | 145037258 | 145037258 | Asymptomatic | HiSeq X Ten |
| 10991 | 27010 | TPK1 | 7 | 144545889 | 144545889 | Asymptomatic | HiSeq X Ten |
| 11116 | 27010 | TPK1 | 7 | 145206263 | 145206263 | Asymptomatic | HiSeq X Ten |
| 11186 | 27010 | TPK1 | 7 | 144178384 | 144178384 | Asymptomatic | HiSeq X Ten |
| 11227 | 27010 | TPK1 | 7 | 145467724 | 145467724 | Asymptomatic | HiSeq X Ten |
| 23208 | 27010 | TPK1 | 7 | 144426074 | 144426074 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 26337 | 27010 | TPK1 | 7 | 145313613 | 145313613 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 26394 | 27010 | TPK1 | 7 | 144545059 | 144545059 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 26427 | 27010 | TPK1 | 7 | 145353771 | 145353771 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 26483 | 27010 | TPK1 | 7 | 145269097 | 145269097 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 26497 | 27010 | TPK1 | 7 | 144332054 | 144332054 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |