| Entrez Gene ID | 55757 |
|---|---|
| Official Gene Symbol | UGGT2 (GeneCards) |
| Full name | UDP-glucose glycoprotein glucosyltransferase 2 |
| Location | 13q32.1 |
| Other ids | Vega : OTTHUMG00000017230 MIM : 605898 HGNC : HGNC:15664 Ensembl : ENSG00000102595 |
| Other names | UGT2, HUGT2, UGCGL2 |
| Summary | UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009] |
Found 3 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 23714 | 55757 | UGGT2 | 13 | 96661740 | 96661740 | Asymptomatic | Single cell Sequencing Cell cloning |
| 29487 | 55757 | UGGT2 | 13 | 96506641 | 96506641 | Autism Spectrum Disorders | Single cell Sequencing Cell cloning MiSeq |
| 29872 | 55757 | UGGT2 | 13 | 96506641 | 96506641 | Autism Spectrum Disorders | Single cell Sequencing Cell cloning MiSeq NextSeq500 |