Detailed description page of humcfs

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Humcfs_5023 details
Primary information
Humcfs IdHumcfs_5023
chromosome_numberchromosome19
nameFRA19B
chrlocation1-20000000
cytoband19p13
typeFolic acid
frequencyRare
gene_ensembl_idENSG00000126934
gene_nameMAP2K2
havana_transcript_idOTTHUMT00000459404
gene_location4090597-4101047
gene_orientation-
exon_idENSE00003114945, ENSE00003634914, ENSE00003522027, ENSE00003523377, ENSE00003009044
exon_number5
gene_descriptionmitogen-activated protein kinase kinase 2
disease_descriptionCafe-au-lait macules with pulmonary stenosis,Adenoid Cystic Carcinoma,Dysmorphic features,Skin Abnormalities,Cardio-facio-cutaneous syndrome,Liver carcinoma,Rhabdoid Tumor of the Kidney,Adenocarcinoma,Neoplasm Metastasis,Coronary Artery Disease,Lung Neoplasms,Colorectal Cancer,Noonan Syndrome,melanoma,ovarian neoplasm,Carcinoma of lung,Malignant neoplasm of lung,Diabetic Nephropathy,Costello syndrome (disorder),Mental Retardation,Ovarian Carcinoma,Alzheimer's Disease,Tumor Progression,Colorectal Neoplasms,Thyroid cancer metastatic,Malignant tumor of colon,LEOPARD Syndrome,Carcinogenesis,CARDIOFACIOCUTANEOUS SYNDROME 4,Medulloblastoma,Pancreatic carcinoma,Colorectal Carcinoma,Gastroesophageal reflux disease,Intestinal Neoplasms,Malignant neoplasm of pancreas,Anoxia,Congenital Heart Defects,Ulcerative Colitis,Glioma,Cholangiocarcinoma,Malignant neoplasm of ovary,Neurofibromatosis-Noonan syndrome,Ectodermal Dysplasia,Colon Carcinoma,Malignant neoplasm of gastrointestinal tract
miRNA_locationNA
miRNA_strandNA
miRNA_idNA
miRNA_nameNA
miRNA_derived NA
TechniqueFISH
PMID3568428
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