Detailed description page of humcfs
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Humcfs_2639 details |
| Primary information | |
|---|---|
| Humcfs Id | Humcfs_2639 |
| chromosome_number | chromosome10 |
| name | FRA10A |
| chrlocation | 97000000-1089500001 |
| cytoband | 10q23.3 |
| type | Folic acid |
| frequency | Rare |
| gene_ensembl_id | ENSG00000186862 |
| gene_name | PDZD7 |
| havana_transcript_id | OTTHUMT00000049885 |
| gene_location | 101011958-101018869 |
| gene_orientation | - |
| exon_id | ENSE00001627441, ENSE00003689321, ENSE00001452094, ENSE00001452095, ENSE00003574479, ENSE00001787211 |
| exon_number | 6 |
| gene_description | PDZ domain containing 7 |
| disease_description | DEAFNESS, AUTOSOMAL RECESSIVE (disorder),Retinal Diseases,Usher Syndrome, Type II,Usher Syndrome,USHER SYNDROME, TYPE IIA,Usher syndrome type 2,USHER SYNDROME, TYPE IIC, GPR98/PDZD7, DIGENIC |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | Karyotyping |
| PMID | 3879149 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |