Detailed description page of humcfs
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Humcfs_4141 details |
| Primary information | |
|---|---|
| Humcfs Id | Humcfs_4141 |
| chromosome_number | chromosome19 |
| name | FRA19A |
| chrlocation | 32400001-59128983 |
| cytoband | 19q13 |
| type | 5-azacytidine |
| frequency | Common |
| gene_ensembl_id | ENSG00000105392 |
| gene_name | CRX |
| havana_transcript_id | OTTHUMT00000431053 |
| gene_location | 47819779-47836314 |
| gene_orientation | + |
| exon_id | ENSE00002612811, ENSE00000715896, ENSE00002603684 |
| exon_number | 3 |
| gene_description | cone-rod homeobox |
| disease_description | Retinal Dystrophy, Early Onset Severe,Spinocerebellar Ataxia Type 7,Retinitis Pigmentosa,Retinoblastoma,Blind Vision,Neoplasm Metastasis,Night Blindness,Macular dystrophy,Pineal Gland Neoplasm,Hereditary macular dystrophy,LEBER CONGENITAL AMAUROSIS 7,Mental Retardation,pineoblastoma,Developmental delay (disorder),Leber Congenital Amaurosis,Age related macular degeneration,Inflammatory Bowel Diseases,Retinal Degeneration,Congenital keratoglobus,Retinal Diseases,Amelogenesis Imperfecta,Severe visual impairment,Cone dystrophy,Retinal Dystrophies,Optic Atrophy, Hereditary, Leber,Photoreceptor degeneration,Cone-Rod Dystrophy 2,Unspecified visual loss |
| 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 |