Detailed description page of humcfs
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Humcfs_1575 details |
| Primary information | |
|---|---|
| Humcfs Id | Humcfs_1575 |
| chromosome_number | chromosome5 |
| name | FRA5G |
| chrlocation | 168500001-180915260 |
| cytoband | 5q35 |
| type | Folic acid |
| frequency | Rare |
| gene_ensembl_id | ENSG00000175309 |
| gene_name | PHYKPL |
| havana_transcript_id | OTTHUMT00000253477 |
| gene_location | 178208497-178232785 |
| gene_orientation | - |
| exon_id | ENSE00001929179, ENSE00003497461, ENSE00003533941, ENSE00003527335, ENSE00003475023, ENSE00003529560, ENSE00003517780, ENSE00003686549, ENSE00003562527, ENSE00003646616, ENSE00003575676, ENSE000036535 |
| exon_number | 13 |
| gene_description | 5-phosphohydroxy-L-lysine phospho-lyase |
| disease_description | Hydroxylysinuria,PHOSPHOHYDROXYLYSINURIA |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | Karyotyping |
| PMID | 15650228 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |