| Primary information |
|---|
| Humcfs Id | Humcfs_4270 |
| chromosome_number | chromosome19 |
| name | FRA19A |
| chrlocation | 32400001-59128983 |
| cytoband | 19q13 |
| type | 5-azacytidine |
| frequency | Common |
| gene_ensembl_id | ENSG00000042753 |
| gene_name | AP2S1 |
| havana_transcript_id | OTTHUMT00000466639 |
| gene_location | 46838136-46850777 |
| gene_orientation | - |
| exon_id | ENSE00003010989, ENSE00003553991, ENSE00003157136, ENSE00000858310, ENSE00003117493 |
| exon_number | 5 |
| gene_description | adaptor-related protein complex 2, sigma 1 subunit |
| disease_description | Hypercalciuria,Hypoparathyroidism - autosomal dominant,Hyperparathyroidism, Primary,Hyperparathyroidism,Hypocalciuria,HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III,Hypercalcemia,Hypocalciuric hypercalcemia, familial, type 1,Hypoparathyroidism |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | Karyotyping |
| PMID | 2579891 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |