Detailed description page of humcfs

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COL6A3 details
Primary information
gene_nameCOL6A3
Humcfs IdHumcfs_950
chromosome_numberchromosome2
nameFRA2J
chrlocation237300001-243199373
cytoband2q37.3
typeAphidicolin
frequencyCommon
gene_ensembl_idENST00000491233
havana_transcript_idOTTHUMT00000315793
gene_location237386454-237388077
gene_orientation-
exon_idENSE00001897334, ENSE00001856445
exon_number2
gene_descriptioncollagen, type VI, alpha 3
disease_descriptionDermatitis, Atopic,Skin Abnormalities,Paresis,Neoplasm Metastasis,Myopathy,Obesity,Muscular Dystrophy,Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder),Tobacco Use Disorder,Contracture of joint,melanoma,Precancerous Conditions,Spontaneous abortion,Down Syndrome,Cerebrovascular accident,Cerebral Hemorrhage,CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT,Pancreatic Ductal Adenocarcinoma,Prostatic Neoplasms,Congenital muscular dystrophy (disorder),Pancreatic carcinoma,Desmoplastic,Giant Cell Tumors,Bethlem myopathy,Proximal weakness,Malignant neoplasm of pancreas,Keratosis pilaris,Muscle Weakness,Eczema,Subarachnoid Hemorrhage,Scleroatonic muscular dystrophy,Intracranial Hemorrhages
miRNA_locationNA
miRNA_strandNA
miRNA_idNA
miRNA_nameNA
miRNA_derived NA
TechniqueKaryotyping
PMID1840562
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