Detailed description page of humcfs
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Humcfs_5082 details |
| Primary information | |
|---|---|
| Humcfs Id | Humcfs_5082 |
| chromosome_number | chromosome20 |
| name | FRA20A |
| chrlocation | 17900001-21300000 |
| cytoband | 20p11.23 |
| type | Folic acid |
| frequency | Rare |
| gene_ensembl_id | ENSG00000101310 |
| gene_name | SEC23B |
| havana_transcript_id | OTTHUMT00000078182 |
| gene_location | 18507493-18526531 |
| gene_orientation | + |
| exon_id | ENSE00001653313, ENSE00002407714, ENSE00003651350, ENSE00001792458, ENSE00001639307, ENSE00001770638, ENSE00001754392, ENSE00003787525 |
| exon_number | 8 |
| gene_description | Sec23 homolog B (S. cerevisiae) |
| disease_description | Cholecystolithiasis,Deficiency of mevalonate kinase,Hyperbilirubinemia,hereditary anemia,Hematological Disease,Congenital dyserythropoietic anemia, type II,Congenital dyserythropoietic anemia,Tobacco Use Disorder,Dyserythropoietic anemia,Cholelithiasis,Beta thalassemia trait,Coagulation factor deficiency syndrome,Iron Overload,beta Thalassemia,Extramedullary Hematopoiesis (disorder),Anemia |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | Karyotyping |
| PMID | 453198 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |