Detailed description page of humcfs
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Humcfs_3920 details |
| Primary information | |
|---|---|
| Humcfs Id | Humcfs_3920 |
| chromosome_number | chromosome17 |
| name | FRA17A |
| chrlocation | 10700001-16000000 |
| cytoband | 17p12 |
| type | DistamycinA |
| frequency | Rare |
| gene_ensembl_id | ENSG00000006695 |
| gene_name | COX10 |
| havana_transcript_id | OTTHUMT00000130004 |
| gene_location | 14069496-14077322 |
| gene_orientation | + |
| exon_id | ENSE00002705332, ENSE00003685620, ENSE00001719550 |
| exon_number | 3 |
| gene_description | COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor |
| disease_description | Leigh Disease,Hypertrophic Cardiomyopathy,Cytochrome-c Oxidase Deficiency,Leukodystrophy,Myasthenic Syndrome due to Mutation in SCN4A,Mitochondrial Myopathies,Charcot-Marie-Tooth Disease, Type Ia (disorder),Alzheimer's Disease,Hereditary liability to pressure palsies,Diabetes Mellitus, Non-Insulin-Dependent,Anemia |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | Karyotyping |
| PMID | 2714776 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |