Detailed description page of humcfs
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Humcfs_5017 details |
| Primary information | |
|---|---|
| Humcfs Id | Humcfs_5017 |
| chromosome_number | chromosome19 |
| name | FRA19B |
| chrlocation | 1-20000000 |
| cytoband | 19p13 |
| type | Folic acid |
| frequency | Rare |
| gene_ensembl_id | ENSG00000186111 |
| gene_name | PIP5K1C |
| havana_transcript_id | OTTHUMT00000453629 |
| gene_location | 3636601-3700390 |
| gene_orientation | - |
| exon_id | ENSE00002241647, ENSE00000664362, ENSE00000664361, ENSE00000664360, ENSE00000664359, ENSE00000664358, ENSE00003651897, ENSE00003562391, ENSE00003656395, ENSE00003547074, ENSE00003639966, ENSE000035479 |
| exon_number | 17 |
| gene_description | phosphatidylinositol-4-phosphate 5-kinase, type I, gamma |
| disease_description | LETHAL CONGENITAL CONTRACTURAL SYNDROME 3 |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | FISH |
| PMID | 3568428 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |