Detailed description page of humcfs

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DBT details
Primary information
gene_nameDBT
Humcfs IdHumcfs_339
chromosome_numberchromosome1
nameFRA1E
chrlocation99700001-102200000
cytoband1p21
typeAphidicolin
frequencyCommon
gene_ensembl_idENSG00000137992
havana_transcript_idOTTHUMT00000030102
gene_location100210543-100249820
gene_orientation-
exon_idENSE00001727392, ENSE00000831294, ENSE00000831295, ENSE00000831296, ENSE00000831297, ENSE00000831298, ENSE00000831299, ENSE00001451909
exon_number8
gene_descriptiondihydrolipoamide branched chain transacylase E2
disease_descriptionIntermediate Maple Syrup Urine Disease,Maple Syrup Urine Disease,Glioblastoma,Intermittent Maple Syrup Urine Disease,Disorder of branched-chain amino acid metabolism,Biliary cirrhosis,Hepatitis, Autoimmune,Severe mental retardation (I.Q. 20-34),Classic Maple Syrup Urine Disease,Primary biliary cirrhosis,MAPLE SYRUP URINE DISEASE, TYPE II
miRNA_locationNA
miRNA_strandNA
miRNA_idNA
miRNA_nameNA
miRNA_derived NA
TechniqueFISH
PMID16556484
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