| Primary information |
|---|
| gene_name | GAMT |
| Humcfs Id | Humcfs_5065 |
| chromosome_number | chromosome19 |
| name | FRA19B |
| chrlocation | 1-20000000 |
| cytoband | 19p13 |
| type | Folic acid |
| frequency | Rare |
| gene_ensembl_id | ENSG00000130005 |
| havana_transcript_id | OTTHUMT00000449741 |
| gene_location | 1398600-1399804 |
| gene_orientation | - |
| exon_id | ENSE00002829997, ENSE00001699690, ENSE00000753082, ENSE00000753081, ENSE00003714948 |
| exon_number | 5 |
| gene_description | guanidinoacetate N-methyltransferase |
| disease_description | Seizures,Amino Acid Metabolism, Inborn Errors,Spina Bifida,Ischemic stroke,Intellectual Disability,Creatine deficiency, X-linked,Ischemic Cerebrovascular Accident,Guanidinoacetate methyltransferase deficiency |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | FISH |
| PMID | 3568428 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |