Primary information |
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gene_name | AP2S1 |
Humcfs Id | Humcfs_4270 |
chromosome_number | chromosome19 |
name | FRA19A |
chrlocation | 32400001-59128983 |
cytoband | 19q13 |
type | 5-azacytidine |
frequency | Common |
gene_ensembl_id | ENSG00000042753 |
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 |