Detailed description page of humcfs

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AP2S1 details
Primary information
gene_nameAP2S1
Humcfs IdHumcfs_4270
chromosome_numberchromosome19
nameFRA19A
chrlocation32400001-59128983
cytoband19q13
type5-azacytidine
frequencyCommon
gene_ensembl_idENSG00000042753
havana_transcript_idOTTHUMT00000466639
gene_location46838136-46850777
gene_orientation-
exon_idENSE00003010989, ENSE00003553991, ENSE00003157136, ENSE00000858310, ENSE00003117493
exon_number5
gene_descriptionadaptor-related protein complex 2, sigma 1 subunit
disease_descriptionHypercalciuria,Hypoparathyroidism - autosomal dominant,Hyperparathyroidism, Primary,Hyperparathyroidism,Hypocalciuria,HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III,Hypercalcemia,Hypocalciuric hypercalcemia, familial, type 1,Hypoparathyroidism
miRNA_locationNA
miRNA_strandNA
miRNA_idNA
miRNA_nameNA
miRNA_derived NA
TechniqueKaryotyping
PMID2579891
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