| Entrez Gene ID | 54386 |
|---|---|
| Official Gene Symbol | TERF2IP (GeneCards) |
| Full name | TERF2 interacting protein |
| Location | 16q23.1 |
| Other ids | Vega : OTTHUMG00000177136 MIM : 605061 HGNC : HGNC:19246 Ensembl : ENSG00000166848 |
| Other names | RAP1, DRIP5 |
| Summary | The gene encodes a protein that is part of a complex involved in telomere length regulation. Pseudogenes are present on chromosomes 5 and 22. [provided by RefSeq, Apr 2010] |
Found 5 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 19478 | 54386 | TERF2IP | 16 | 76197833 | 76197833 | Asymptomatic | HiSeq X Ten |
| 19541 | 54386 | TERF2IP | 16 | 75868225 | 75868225 | Asymptomatic | HiSeq X Ten |
| 19657 | 54386 | TERF2IP | 16 | 76246833 | 76246833 | Asymptomatic | HiSeq X Ten |
| 19687 | 54386 | TERF2IP | 16 | 75989891 | 75989891 | Cockayne syndrome | HiSeq X Ten |
| 28122 | 54386 | TERF2IP | 16 | 76177533 | 76177533 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |