Detailed description page of humcfs
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Humcfs_996 details |
| Primary information | |
|---|---|
| Humcfs Id | Humcfs_996 |
| chromosome_number | chromosome2 |
| name | FRA2L |
| chrlocation | 83300001-90500000 |
| cytoband | 2q22.3 |
| type | Folic acid |
| frequency | Rare |
| gene_ensembl_id | ENST00000538924 |
| gene_name | REEP1 |
| havana_transcript_id | OTTHUMT00000490223 |
| gene_location | 86216308-86337626 |
| gene_orientation | - |
| exon_id | ENSE00003537521, ENSE00003792365, ENSE00003798694, ENSE00003582926, ENSE00003606640, ENSE00003700390, ENSE00003698407, ENSE00003480969, ENSE00003474551 |
| exon_number | 9 |
| gene_description | receptor accessory protein 1 |
| disease_description | SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT,Muscle Spasticity,Spastic Paraplegia, Hereditary,Disorder of the optic nerve,Charcot-Marie-Tooth Disease,Hereditary Autosomal Dominant Spastic Paraplegia,NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB,Tobacco Use Disorder,NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V,Spastic Paraplegia,Cerebellar atrophy,Neurodegenerative Disorders,Paraparesis, Spastic,Henoch-Schoenlein Purpura,Spastic Paraplegia Type 7 |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | Karyotyping |
| PMID | 2254969 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |