Detailed description page of humcfs
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Humcfs_3253 details |
| Primary information | |
|---|---|
| Humcfs Id | Humcfs_3253 |
| chromosome_number | chromosome11 |
| name | FRA11H |
| chrlocation | 63400001-77100000 |
| cytoband | 11q13 |
| type | Aphidicolin |
| frequency | Common |
| gene_ensembl_id | ENSG00000165462 |
| gene_name | PHOX2A |
| havana_transcript_id | OTTHUMT00000396884 |
| gene_location | 72239077-72241192 |
| gene_orientation | - |
| exon_id | ENSE00002287327, ENSE00002203337 |
| exon_number | 2 |
| gene_description | paired-like homeobox 2a |
| disease_description | Ptosis,Hypertensive disease,Congenital Abnormality,Exotropia,Neuroblastoma,FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2,Mental Retardation, X-Linked,Epilepsy,Neurodevelopmental Disorders,Blepharoptosis,Muscular fasciculation,Congenital Fibrosis of the Extraocular Muscles,Central neuroblastoma,Down Syndrome,Fibrosis,Diabetes Mellitus, Non-Insulin-Dependent,Strabismus |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | Karyotyping |
| PMID | 23852038 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |