Detailed description page of humcfs

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EDARADD details
Primary information
gene_nameEDARADD
Humcfs IdHumcfs_500
chromosome_numberchromosome1
nameFRA1H
chrlocation224100001-236600000
cytoband1q42
type5-azacytidine
frequencyCommon
gene_ensembl_idENSG00000186197
havana_transcript_idOTTHUMT00000489110
gene_location236348257-236484837
gene_orientation+
exon_idENSE00003799798, ENSE00003531326, ENSE00001797060, ENSE00001765982, ENSE00001715490, ENSE00003794497
exon_number6
gene_descriptionEDAR-associated death domain
disease_descriptionEctodermal Dysplasia 3, Anhidrotic,ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT,Anhydrotic Ectodermal Dysplasias,Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive,Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder),ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE,Ectodermal Dysplasia,Christ-Siemens-Touraine syndrome,Hypodontia
miRNA_location228462074-228462152
miRNA_strand+
miRNA_idMI0017296
miRNA_namehsa-mir-4666a
miRNA_derived NA
TechniqueFISH
PMID17311248
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