Primary information |
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Humcfs Id | Humcfs_339 |
chromosome_number | chromosome1 |
name | FRA1E |
chrlocation | 99700001-102200000 |
cytoband | 1p21 |
type | Aphidicolin |
frequency | Common |
gene_ensembl_id | ENSG00000137992 |
gene_name | DBT |
havana_transcript_id | OTTHUMT00000030102 |
gene_location | 100210543-100249820 |
gene_orientation | - |
exon_id | ENSE00001727392, ENSE00000831294, ENSE00000831295, ENSE00000831296, ENSE00000831297, ENSE00000831298, ENSE00000831299, ENSE00001451909 |
exon_number | 8 |
gene_description | dihydrolipoamide branched chain transacylase E2 |
disease_description | Intermediate 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_location | NA |
miRNA_strand | NA |
miRNA_id | NA |
miRNA_name | NA |
miRNA_derived | NA |
Technique | FISH |
PMID | 16556484 |
Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |