Detailed description page of humcfs
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PRPH details |
| Primary information | |
|---|---|
| gene_name | PRPH |
| Humcfs Id | Humcfs_3400 |
| chromosome_number | chromosome12 |
| name | FRA12A |
| chrlocation | 46400001-54900000 |
| cytoband | 12q13.1 |
| type | Folic acid |
| frequency | Rare |
| gene_ensembl_id | ENSG00000135406 |
| havana_transcript_id | OTTHUMT00000393384 |
| gene_location | 49295362-49297238 |
| gene_orientation | + |
| exon_id | ENSE00002174191, ENSE00002148648, ENSE00003498876, ENSE00003572461, ENSE00003529345, ENSE00003244004 |
| exon_number | 6 |
| gene_description | peripherin |
| disease_description | Central areolar choroidal sclerosis,Charcot-Marie-Tooth Disease,Retinitis Pigmentosa,Macular degeneration,Dominant drusen,Autosomal recessive retinitis pigmentosa,Neuroblastoma,CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2,Amyotrophic Lateral Sclerosis,GIANT AXONAL NEUROPATHY 1,Macular dystrophy,Hereditary macular dystrophy,Autosomal dominant retinitis pigmentosa,Age related macular degeneration,Retinal Degeneration,Neuropathy,Peripheral degeneration of retina,Myopia,Retinal Diseases,Disorder of macula of retina,Drusen,Adult-Onset Vitelliform Macular Dystrophy,Amyotrophic Lateral Sclerosis, Sporadic,AMYOTROPHIC LATERAL SCLEROSIS 1,Cone dystrophy,Retinal Dystrophies |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | FISH |
| PMID | 8833161 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |