Detailed description page of humcfs
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Humcfs_5092 details |
| Primary information | |
|---|---|
| Humcfs Id | Humcfs_5092 |
| chromosome_number | chromosome20 |
| name | FRA20B |
| chrlocation | 9200001-12100000 |
| cytoband | 20p12.2 |
| type | Aphidicolin |
| frequency | Common |
| gene_ensembl_id | ENSG00000125863 |
| gene_name | MKKS |
| havana_transcript_id | OTTHUMT00000472492 |
| gene_location | 10413520-10431922 |
| gene_orientation | - |
| exon_id | ENSE00003709741, ENSE00001226222, ENSE00001536226 |
| exon_number | 3 |
| gene_description | McKusick-Kaufman syndrome |
| disease_description | Pediatric Obesity,Congenital malformation syndrome,Metabolic Syndrome X,Bardet-Biedl Syndrome,Kabuki make-up syndrome,Diabetes Mellitus,Pleural effusion disorder,BARDET-BIEDL SYNDROME 6,Cystic kidney,Mental Retardation,Diabetes,Liver carcinoma,Cutis Laxa,Nephronophthisis,Retinal Diseases,Kaufman-McKusick syndrome,Multiple Myeloma,Familial aplasia of the vermis,Obesity, Morbid,Obesity,Congenital Heart Defects,Hypertensive disease,Meckel syndrome type 1,Immunologic Deficiency Syndromes,Colon Carcinoma,Hydrometrocolpos |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | Karyotyping |
| PMID | 453198 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |