Detailed description page of humcfs
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Humcfs_1126 details |
| Primary information | |
|---|---|
| Humcfs Id | Humcfs_1126 |
| chromosome_number | chromosome2 |
| name | FRA2S |
| chrlocation | 44100001-154900000 |
| cytoband | 2q23.3 |
| type | Aphidicolin |
| frequency | Common |
| gene_ensembl_id | ENST00000412438 |
| gene_name | MCFD2 |
| havana_transcript_id | OTTHUMT00000329525 |
| gene_location | 46905466-46914118 |
| gene_orientation | - |
| exon_id | ENSE00001754499, ENSE00003462240, ENSE00003674533, ENSE00001587101, ENSE00001692670 |
| exon_number | 5 |
| gene_description | multiple coagulation factor deficiency 2 |
| disease_description | Hemophilia A,Hematological Disease,Familial multiple factor deficiency syndrome, type I,Blood Coagulation Disorders,Congenital dyserythropoietic anemia, type II,Seminoma,FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF,Coagulation factor deficiency syndrome,Vitamin K Deficiency,FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2,VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1,Factor V Deficiency |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | Karyotyping |
| PMID | 20851513 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |