Detailed description page of humcfs
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CC2D2A details |
| Primary information | |
|---|---|
| gene_name | CC2D2A |
| Humcfs Id | Humcfs_1377 |
| chromosome_number | chromosome4 |
| name | FRA4D |
| chrlocation | 11300001-35800000 |
| cytoband | 4p15 |
| type | Aphidicolin |
| frequency | Common |
| gene_ensembl_id | ENSG00000048342 |
| havana_transcript_id | OTTHUMT00000359917 |
| gene_location | 15469903-15481290 |
| gene_orientation | + |
| exon_id | ENSE00002062526, ENSE00002075955, ENSE00003661073, ENSE00003512227, ENSE00003538646, ENSE00002041661 |
| exon_number | 6 |
| gene_description | coiled-coil and C2 domain containing 2A |
| disease_description | Seizures,Meckel syndrome type 1,Meckel-Gruber syndrome,Cystic Kidney Diseases,Familial aplasia of the vermis,Retinitis Pigmentosa,Nephronophthisis,Hydrocephalus,Intellectual Disability,MECKEL SYNDROME, TYPE 6 (disorder),Cystic kidney,Liver diseases,Conduct Disorder,Mental Retardation,COACH syndrome,Cyst,JOUBERT SYNDROME 9 (disorder),Congenital cystic kidney disease |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | Karyotyping |
| PMID | 17567780 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |