Detailed description page of humcfs
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Humcfs_4839 details |
| Primary information | |
|---|---|
| Humcfs Id | Humcfs_4839 |
| chromosome_number | chromosome19 |
| name | FRA19B |
| chrlocation | 1-20000000 |
| cytoband | 19p13 |
| type | Folic acid |
| frequency | Rare |
| gene_ensembl_id | ENSG00000105607 |
| gene_name | GCDH |
| havana_transcript_id | OTTHUMT00000451903 |
| gene_location | 12891168-12896015 |
| gene_orientation | + |
| exon_id | ENSE00002927989, ENSE00003646854, ENSE00003643085, ENSE00003566094, ENSE00003523833, ENSE00002916437 |
| exon_number | 6 |
| gene_description | glutaryl-CoA dehydrogenase |
| disease_description | Amino Acid Metabolism, Inborn Errors,Colorectal Cancer,Dyskinetic syndrome,Neurologic Symptoms,Metabolic Diseases,Inborn Errors of Metabolism,Generalized dystonia,Colorectal Carcinoma,Avellino corneal dystrophy,Glutaric aciduria, type 1,Finding of Mean Corpuscular Hemoglobin,Dystonia,Dystonia Disorders |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | FISH |
| PMID | 3568428 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |