Detailed description page of humcfs

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BLOC1S2 details
Primary information
gene_nameBLOC1S2
Humcfs IdHumcfs_2562
chromosome_numberchromosome10
nameFRA10A
chrlocation97000000-1089500001
cytoband10q23.3
typeFolic acid
frequencyRare
gene_ensembl_idENSG00000196072
havana_transcript_idOTTHUMT00000445026
gene_location100280041-100286148
gene_orientation-
exon_idENSE00002684229, ENSE00003511662, ENSE00002713475
exon_number3
gene_descriptionbiogenesis of lysosomal organelles complex-1, subunit 2
disease_descriptionChronic myeloproliferative disorder,Varicosity,Varicose Ulcer,Thrombophilia,Chronic venous insufficiency,Myeloproliferative disease,Disorder of vein,Sciatica
miRNA_location104268377-104268398
miRNA_strand-
miRNA_idMIMAT0019016
miRNA_namehsa-miR-4482-5p
miRNA_derived MI0016843
TechniqueKaryotyping
PMID3879149
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