Detailed description page of humcfs

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Humcfs_2931 details
Primary information
Humcfs IdHumcfs_2931
chromosome_numberchromosome11
nameFRA11B
chrlocation114500001-121200000
cytoband11q23.3
typeFolic acid
frequencyRare
gene_ensembl_idENSG00000256269
gene_nameHMBS
havana_transcript_idOTTHUMT00000399197
gene_location119084930-119093533
gene_orientation+
exon_idENSE00002230409, ENSE00003537468, ENSE00003646270, ENSE00003662430, ENSE00003611393, ENSE00003525344, ENSE00003471706, ENSE00003788716, ENSE00003460195, ENSE00003609229, ENSE00003610664, ENSE000025398
exon_number12
gene_descriptionhydroxymethylbilane synthase
disease_descriptionVariegate Porphyria,Hyperbilirubinemia,Hydroxymethylbilane Synthase Deficiency,Malignant neoplasm of liver,Liver and Intrahepatic Biliary Tract Carcinoma,Trisomy,Liver diseases,Pituitary Diseases,Dermatitis, Phototoxic,Phototoxicity,Non-Small Cell Lung Carcinoma,Malignant neoplasm of breast,Breast Carcinoma,Neuropathy,Severe hypoxic ischemic encephalopathy,Myeloid Leukemia, Chronic,Cirrhosis,Adenoma,Liver carcinoma,Choriocarcinoma,Muscular Atrophy,Metabolic Diseases,Lipoid nephrosis,Liver Cirrhosis,Frontotemporal Lobar Degeneration,Lymphoma,Hypertrophic Cardiomyopathy,Colorectal Neoplasms,Acute intermittent porphyria,Diabetes Mellitus, Experimental,3-Hydroxyacyl-CoA Dehydrogenase Deficiency,LATERAL MENINGOCELE SYNDROME,leukemia,Nephrotic Syndrome,Primary malignant neoplasm of liver,Disorders of Porphyrin Metabolism,Gallbladder Carcinoma,Peripheral motor neuropathy,Laryngeal cleft,Neurodegenerative Disorders,Peripheral Neuropathy,Seminoma,Porphyrias, Hepatic,Hypoxic-Ischemic Encephalopa
miRNA_locationNA
miRNA_strandNA
miRNA_idNA
miRNA_nameNA
miRNA_derived NA
TechniqueFISH
PMID17063465
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