Detailed description page of humcfs
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Humcfs_3811 details |
| Primary information | |
|---|---|
| Humcfs Id | Humcfs_3811 |
| chromosome_number | chromosome16 |
| name | FRA16B |
| chrlocation | 66700001-70800000 |
| cytoband | 16q22.1 |
| type | DistamycinA |
| frequency | Rare |
| gene_ensembl_id | ENSG00000103056 |
| gene_name | SMPD3 |
| havana_transcript_id | OTTHUMT00000436206 |
| gene_location | 68361127-68372258 |
| gene_orientation | - |
| exon_id | ENSE00002615037, ENSE00002604194, ENSE00003694429, ENSE00003468035, ENSE00003543111, ENSE00003631182, ENSE00002576388 |
| exon_number | 7 |
| gene_description | sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) |
| disease_description | Chronic Obstructive Airway Disease,Transient Ischemic Attack,Panhypopituitarism,Pituitary Dwarfism Type 3,Osteogenesis imperfecta, dominant perinatal lethal,leukemia,Osteogenesis imperfecta type III (disorder),Leukemia, Myelocytic, Acute,MYELODYSPLASTIC SYNDROME,Lymphoid leukemia,Pulmonary Hypertension,Neoplasm Metastasis,Mammary Neoplasms,Malignant neoplasm of breast,Dwarfism,Breast Carcinoma |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | Karyotyping |
| PMID | 3338799 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |