| Entrez Gene ID | 2131 |
|---|---|
| Official Gene Symbol | EXT1 (GeneCards) |
| Full name | exostosin glycosyltransferase 1 |
| Location | 8q24.11 |
| Other ids | Vega : OTTHUMG00000059718 MIM : 608177 HGNC : HGNC:3512 Ensembl : ENSG00000182197 |
| Other names | EXT, LGS, TTV, LGCR, TRPS2 |
| Summary | This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008] |
Found 6 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 11944 | 2131 | EXT1 | 8 | 119091464 | 119091464 | Asymptomatic | HiSeq X Ten |
| 11960 | 2131 | EXT1 | 8 | 119148653 | 119148653 | Asymptomatic | HiSeq X Ten |
| 12579 | 2131 | EXT1 | 8 | 118925969 | 118925969 | Asymptomatic | HiSeq X Ten |
| 26581 | 2131 | EXT1 | 8 | 119134332 | 119134332 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 29320 | 2131 | EXT1 | 8 | 118830706 | 118830706 | Autism Spectrum Disorders | HiSeq X Ten Single cell Sequencing Cell cloning PASM |
| 29818 | 2131 | EXT1 | 8 | 118830706 | 118830706 | Autism Spectrum Disorders | HiSeq X Ten Single cell Sequencing Cell cloning PASM NextSeq500 |