Detailed description page of humcfs
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Humcfs_1184 details |
| Primary information | |
|---|---|
| Humcfs Id | Humcfs_1184 |
| chromosome_number | chromosome3 |
| name | FRA3A |
| chrlocation | 23900001-26400000 |
| cytoband | 3p24.2 |
| type | Aphidicolin |
| frequency | Common |
| gene_ensembl_id | ENSG00000151092 |
| gene_name | NGLY1 |
| havana_transcript_id | OTTHUMT00000340835 |
| gene_location | 25719276-25783381 |
| gene_orientation | - |
| exon_id | ENSE00001674648, |
| exon_number | 12 |
| gene_description | N-glycanase 1 |
| disease_description | Dysmorphic features,Scoliosis, unspecified,Neuropathy,Liver diseases,Congenital scoliosis,Acquired scoliosis,CONGENITAL DISORDER OF DEGLYCOSYLATION |
| miRNA_location | 25664875-25664891 |
| miRNA_strand | - |
| miRNA_id | MIMAT0018960 |
| miRNA_name | hsa-miR-4442 |
| miRNA_derived | MI0016785 |
| Technique | Karyotyping |
| PMID | 6430783 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |