Detailed description page of humcfs

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Humcfs_2472 details
Primary information
Humcfs IdHumcfs_2472
chromosome_numberchromosome8
nameFRA8E
chrlocation117700001-127300000
cytoband8q24.1
typeDistamycinA
frequencyRare
gene_ensembl_idENSG00000182197
gene_nameEXT1
havana_transcript_idOTTHUMT00000132770
gene_location117830237-118110414
gene_orientation-
exon_idENSE00001723926, ENSE00001731734, ENSE00003688421, ENSE00001326832, ENSE00001707712
exon_number5
gene_descriptionexostosin glycosyltransferase 1
disease_descriptionIntellectual Disability,Congenital Abnormality,alcohol use disorder,EXOSTOSES, MULTIPLE, TYPE II,Hypercholesterolemia, Familial,Posttransfusion viral hepatitis,Hepatitis,Autistic Disorder,Langer-Giedion Syndrome,Liver diseases,Conduct Disorder,Irido-corneo-trabecular dysgenesis (disorder),Chondroma,Disorder of skeletal system,Hepatitis, Chronic,HIV Infections,Malignant neoplasm of breast,Hay fever,Steroid-sensitive nephrotic syndrome,Skin carcinoma,Renal Failure, Progressive, with Hypertension,Cartilaginous exostosis,Trichorhinophalangeal syndrome,Congenital chromosomal disease,Mucopolysaccharidoses,Fragile X chromosome,Breast Carcinoma,Mental Retardation,Staphylococcal Scalded Skin Syndrome,Alcohol problem,Acute hepatitis,Diabetes Mellitus, Non-Insulin-Dependent,Dysmorphism,Tumor Progression,Liver carcinoma,Secondary Chondrosarcoma,Rheumatoid Arthritis,Carcinogenesis,Bone Diseases,leukemia,Multiple Myeloma,Nephrotic Syndrome,Autosomal dominant hereditary disorder,Osteochondromatosis,H
miRNA_locationNA
miRNA_strandNA
miRNA_idNA
miRNA_nameNA
miRNA_derived NA
TechniqueFISH
PMID9460496
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