| Entrez Gene ID | 3157 |
|---|---|
| Official Gene Symbol | HMGCS1 (GeneCards) |
| Full name | 3-hydroxy-3-methylglutaryl-CoA synthase 1 |
| Location | 5p12 |
| Other ids | Vega : OTTHUMG00000162231 MIM : 142940 HGNC : HGNC:5007 Ensembl : ENSG00000112972 |
| Other names | HMGCS |
| Summary | None |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 7490 | 3157 | HMGCS1 | 5 | 43331896 | 43331896 | Asymptomatic | HiSeq X Ten |
| 8611 | 3157 | HMGCS1 | 5 | 43335664 | 43335664 | Cockayne syndrome | HiSeq X Ten |
| 22977 | 3157 | HMGCS1 | 5 | 43365050 | 43365050 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 29321 | 3157 | HMGCS1 | 5 | 43298925 | 43298925 | Autism Spectrum Disorders | HiSeq X Ten Single cell Sequencing Cell cloning PASM |