Detailed description page of humcfs
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Humcfs_4397 details |
| Primary information | |
|---|---|
| Humcfs Id | Humcfs_4397 |
| chromosome_number | chromosome19 |
| name | FRA19A |
| chrlocation | 32400001-59128983 |
| cytoband | 19q13 |
| type | 5-azacytidine |
| frequency | Common |
| gene_ensembl_id | ENSG00000105409 |
| gene_name | ATP1A3 |
| havana_transcript_id | OTTHUMT00000490545 |
| gene_location | 41988476-41993864 |
| gene_orientation | - |
| exon_id | ENSE00003465025, ENSE00003794448 |
| exon_number | 2 |
| gene_description | ATPase, Na+/K+ transporting, alpha 3 polypeptide |
| disease_description | DYSTONIA 12,Epilepsy,Myotonic Dystrophy,Retinoschisis, Juvenile, X-Linked,Heart failure,MIGRAINE, FAMILIAL HEMIPLEGIC, 2,Dystonia, Primary,Movement Disorders,Dystonia 3, Torsion, X-Linked,Parkinsonian Disorders,Motor disturbances,Congenital Myotonic Dystrophy,Motor symptoms,CAPOS syndrome,nervous system disorder,Degenerative polyarthritis,Microcephaly,Tremor,Alternating hemiplegia of childhood,Neonatal infection,ALTERNATING HEMIPLEGIA OF CHILDHOOD 2,Neurologic Symptoms,Ventricular Dysfunction, Left,Dystonia,Septicemia,Bipolar Disorder,Familial Dystonia,Motor Disorders,Ataxia,Dystonia Disorders |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | Karyotyping |
| PMID | 2579891 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |