Detailed description page of humcfs

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Humcfs_1183 details
Primary information
Humcfs IdHumcfs_1183
chromosome_numberchromosome2
nameFRA2S
chrlocation44100001-154900000
cytoband2q23.3
typeAphidicolin
frequencyCommon
gene_ensembl_idENST00000409271
gene_nameEDAR
havana_transcript_idOTTHUMT00000331201
gene_location108894471-108989269
gene_orientation-
exon_idENSE00001582048, ENSE00000804455, ENSE00000804456, ENSE00001260366, ENSE00001471242, ENSE00000804460, ENSE00001009443, ENSE00001009441, ENSE00001009447, ENSE00001260420, ENSE00001588319, ENSE000015888
exon_number12
gene_descriptionectodysplasin A receptor
disease_descriptionECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE,ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT,Congenital Abnormality,Tooth Loss,Ectodermal Dysplasia 3, Anhidrotic,Anhydrotic Ectodermal Dysplasias,Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive,Breast Carcinoma,Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder),Ectodermal Dysplasia,Christ-Siemens-Touraine syndrome,Hypodontia,Developmental absence of tooth,Congenital anomaly of face,Malignant neoplasm of breast,Alzheimer's Disease
miRNA_locationNA
miRNA_strandNA
miRNA_idNA
miRNA_nameNA
miRNA_derived NA
TechniqueKaryotyping
PMID20851513
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