Detailed description page of humcfs
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Humcfs_1913 details |
| Primary information | |
|---|---|
| Humcfs Id | Humcfs_1913 |
| chromosome_number | chromosome6 |
| name | FRA6H |
| chrlocation | 30400001-46200000 |
| cytoband | 6p21 |
| type | Aphidicolin |
| frequency | Common |
| gene_ensembl_id | ENSG00000048545 |
| gene_name | GUCA1A |
| havana_transcript_id | OTTHUMT00000316583 |
| gene_location | 42155406-42178342 |
| gene_orientation | + |
| exon_id | ENSE00001792492, ENSE00001315961, ENSE00001328922, ENSE00001767205 |
| exon_number | 4 |
| gene_description | guanylate cyclase activator 1A (retina) |
| disease_description | Retinal Degeneration,Cone dystrophy,Retinitis Pigmentosa,Retinal Diseases,Progressive cone dystrophy (without rod involvement),Retinal Dystrophies,Macular dystrophy,Spastic syndrome,Seminoma,Choriocarcinoma,Progressive cone-rod dystrophy,Leber Congenital Amaurosis,Hereditary macular dystrophy,CONE DYSTROPHY 3 (disorder),RETINAL CONE DYSTROPHY 1,Age related macular degeneration |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | BAC cloned |
| PMID | 17290399 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |