Detailed description page of humcfs

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BLOC1S3 details
Primary information
gene_nameBLOC1S3
Humcfs IdHumcfs_4211
chromosome_numberchromosome19
nameFRA19A
chrlocation32400001-59128983
cytoband19q13
type5-azacytidine
frequencyCommon
gene_ensembl_idENSG00000189114
havana_transcript_idOTTHUMT00000457561
gene_location45179669-45181466
gene_orientation+
exon_idENSE00002933641, ENSE00002959286
exon_number2
gene_descriptionbiogenesis of lysosomal organelles complex-1, subunit 3
disease_descriptionPolycystic Ovary Syndrome,Hermanski-Pudlak Syndrome,Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells,HERMANSKY-PUDLAK SYNDROME 8,Hantavirus Infections,Alzheimer's Disease
miRNA_locationNA
miRNA_strandNA
miRNA_idNA
miRNA_nameNA
miRNA_derived NA
TechniqueKaryotyping
PMID2579891
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