Detailed description page of humcfs
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PCDH15 details |
| Primary information | |
|---|---|
| gene_name | PCDH15 |
| Humcfs Id | Humcfs_2713 |
| chromosome_number | chromosome10 |
| name | FRA10C |
| chrlocation | 52900001-70600000 |
| cytoband | 10q21 |
| type | BrdU |
| frequency | Common |
| gene_ensembl_id | ENSG00000150275 |
| havana_transcript_id | OTTHUMT00000476343 |
| gene_location | 53808522-53810664 |
| gene_orientation | - |
| exon_id | ENSE00003474265, ENSE00001712567 |
| exon_number | 2 |
| gene_description | protocadherin-related 15 |
| disease_description | Seizures,Nonsyndromic Deafness,Asthma,Hyperlipidemia, Familial Combined,Retinitis Pigmentosa,Usher Syndrome, Type I,Cardiomegaly,Usher syndrome, type 1A,Usher syndrome, type 1F,Deafness, Autosomal Recessive 23,Developmental delay (disorder),Usher Syndrome, Type IF,Alzheimer's Disease,Usher syndrome, type 1D,Rheumatoid Arthritis,Retinal Diseases,hearing impairment,Microcephaly,Usher Syndrome,Hearing Loss, Mixed Conductive-Sensorineural,Substance-Related Disorders,Deafness,Retinal Dystrophies,Tobacco Use Disorder,Cochlear Diseases,Unspecified visual loss,Alcoholic Intoxication, Chronic,USHER SYNDROME, TYPE IG,USHER SYNDROME, TYPE ID |
| miRNA_location | 57304489-57304510 |
| miRNA_strand | - |
| miRNA_id | MIMAT0018199 |
| miRNA_name | hsa-miR-3924 |
| miRNA_derived | MI0016432 |
| Technique | Karyotyping |
| PMID | 2579891 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |