| Entrez Gene ID | 142940 |
|---|---|
| Official Gene Symbol | TRUB1 (GeneCards) |
| Full name | TruB pseudouridine synthase family member 1 |
| Location | 10q25.3 |
| Other ids | Vega : OTTHUMG00000019094 MIM : 610726 HGNC : HGNC:16060 Ensembl : ENSG00000165832 |
| Other names | PUS4 |
| Summary | Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 867 | 142940 | TRUB1 | 10 | 116702475 | 116702475 | Human Skin Fibroblasts | HiSeq 2500 |