Detailed description page of humcfs
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PHOX2A details |
Primary information | |
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gene_name | PHOX2A |
Humcfs Id | Humcfs_3253 |
chromosome_number | chromosome11 |
name | FRA11H |
chrlocation | 63400001-77100000 |
cytoband | 11q13 |
type | Aphidicolin |
frequency | Common |
gene_ensembl_id | ENSG00000165462 |
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 |