| Entrez Gene ID | 138199 |
|---|---|
| Official Gene Symbol | CARNMT1 (GeneCards) |
| Full name | carnosine N-methyltransferase 1 |
| Location | 9q21.13 |
| Other ids | Vega : OTTHUMG00000020032 MIM : 616552 HGNC : HGNC:23435 Ensembl : ENSG00000156017 |
| Other names | C9orf41, UPF0586 |
| Summary | The protein encoded by this gene is a methyltransferase that converts carnosine to anserine, a dipeptide found abundantly in skeletal muscle. The encoded protein can methylate other dipeptides as well. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2016] |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1194 | 138199 | C9ORF41 | 9 | 77599844 | 77599844 | Autism Spectrum Disorders | NextSeq500 v2 |
| 13154 | 138199 | C9orf41 | 9 | 77649081 | 77649081 | Asymptomatic | NextSeq500 v2 HiSeq X Ten |
| 13343 | 138199 | C9orf41 | 9 | 77652150 | 77652150 | Asymptomatic | NextSeq500 v2 HiSeq X Ten |
| 29825 | 138199 | C9orf41 | 9 | 77599844 | 77599844 | Autism Spectrum Disorders | NextSeq500 v2 HiSeq X Ten NextSeq500 |