Detailed description page of humcfs
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Humcfs_3578 details |
| Primary information | |
|---|---|
| Humcfs Id | Humcfs_3578 |
| chromosome_number | chromosome12 |
| name | FRA12E |
| chrlocation | 109000001-133851895 |
| cytoband | 12q24 |
| type | Aphidicolin |
| frequency | Common |
| gene_ensembl_id | ENSG00000185344 |
| gene_name | ATP6V0A2 |
| havana_transcript_id | OTTHUMT00000400770 |
| gene_location | 123749996-123758015 |
| gene_orientation | + |
| exon_id | ENSE00002253845, ENSE00003656404, ENSE00001291544, ENSE00001304009, ENSE00002293391 |
| exon_number | 5 |
| gene_description | ATPase, H+ transporting, lysosomal V0 subunit a2 |
| disease_description | Malignant Glioma,Breast Carcinoma,Glioma,Male infertility,Mycoses,Muscle hypotonia,Epilepsy,Glioblastoma,Infantile malignant osteopetrosis,Ehlers-Danlos Syndrome,Pulmonary Emphysema,Cutis Laxa,Sepsis,Cutis Laxa, Autosomal Recessive, Type I,Cutis Laxa, Autosomal Recessive, Type IIA,Infection by Cryptococcus neoformans,Malignant neoplasm of breast,Encephalitis,Wrinkly skin syndrome,Crohn Disease |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | Karyotyping |
| PMID | 14526166 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |