Detailed description page of humcfs
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Humcfs_3865 details |
| Primary information | |
|---|---|
| Humcfs Id | Humcfs_3865 |
| chromosome_number | chromosome16 |
| name | FRA16B |
| chrlocation | 66700001-70800000 |
| cytoband | 16q22.1 |
| type | DistamycinA |
| frequency | Rare |
| gene_ensembl_id | ENSG00000196155 |
| gene_name | PLEKHG4 |
| havana_transcript_id | OTTHUMT00000421397 |
| gene_location | 67278157-67280265 |
| gene_orientation | + |
| exon_id | ENSE00002595549, ENSE00002603579, ENSE00002589388 |
| exon_number | 3 |
| gene_description | pleckstrin homology domain containing, family G (with RhoGef domain) member 4 |
| disease_description | Ataxias, Hereditary,Spinocerebellar Ataxia Type 4,Peripheral Neuropathy,Machado-Joseph Disease,Cerebellar Diseases,Ataxia, Spinocerebellar,Cardiac Arrest,Ataxia,Dentatorubral-Pallidoluysian Atrophy,Cerebellar Ataxia,SPINOCEREBELLAR ATAXIA 31 (disorder) |
| 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 |