Detailed description page of humcfs

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Humcfs_4693 details
Primary information
Humcfs IdHumcfs_4693
chromosome_numberchromosome19
nameFRA19B
chrlocation1-20000000
cytoband19p13
typeFolic acid
frequencyRare
gene_ensembl_idENSG00000127616
gene_nameSMARCA4
havana_transcript_idOTTHUMT00000403237
gene_location10961081-11061816
gene_orientation+
exon_idENSE00002960219, ENSE00002772903, ENSE00002858683, ENSE00003618181, ENSE00003525604, ENSE00003604554, ENSE00003531833, ENSE00003670957, ENSE00003607688, ENSE00003546739, ENSE00003527768, ENSE000036679
exon_number35
gene_descriptionSWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
disease_descriptionRubinstein-Taybi Syndrome,Fanconi Anemia,Cancer of Head and Neck,Adult T-Cell Lymphoma/Leukemia,Myopathy,Chronic kidney disease stage 5,Coronary heart disease,Benign Neoplasm,Lymphoma, Diffuse,Cardiovascular Diseases,Myocardial Infarction,MENTAL RETARDATION, AUTOSOMAL DOMINANT 16,Hematologic Neoplasms,Pancreatic Ductal Adenocarcinoma,Prostatic Neoplasms,Pancreatic carcinoma,Carcinoma, Small Cell,Kidney Failure, Chronic,Anaplastic Oligodendroglioma,Astrocytoma,Schimke immunoosseous dysplasia,Triple Negative Breast Neoplasms,Sarcoma,Intellectual Disability,Thymoma,Tumor Progression,Diffuse Large B-Cell Lymphoma,Mental Retardation, X-Linked,Prostate carcinoma,Neurodevelopmental Disorders,Malignant neoplasm of skin,Aortic Aneurysm, Thoracic,Breast Carcinoma,Coronary Artery Disease,Rhabdoid Tumor Predisposition Syndrome,Precursor Cell Lymphoblastic Leukemia Lymphoma,Adenoma,Acute lymphocytic leukemia,alpha-Thalassemia,Hypertrophic Cardiomyopathy,Adenocarcinoma of pancreas,Left Ventricular H
miRNA_location10817429-10817450
miRNA_strand-
miRNA_idMIMAT00002321
miRNA_namehsa-miR-199a-3p
miRNA_derived MI0000242
TechniqueFISH
PMID3568428
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