Detailed description page of humcfs

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ATP6V0E1 details
Primary information
gene_nameATP6V0E1
Humcfs IdHumcfs_1555
chromosome_numberchromosome5
nameFRA5G
chrlocation168500001-180915260
cytoband5q35
typeFolic acid
frequencyRare
gene_ensembl_idENSG00000113732
havana_transcript_idOTTHUMT00000372563
gene_location172983816-173034892
gene_orientation+
exon_idENSE00002122958, ENSE00001129574, ENSE00002091864
exon_number3
gene_descriptionATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1
disease_descriptionGlycogen Storage Disease Type IIb,Myopathy,Dyspepsia,Vacuolar myopathy
miRNA_location172662222-172662242
miRNA_strand+
miRNA_idMIMAT0021026
miRNA_namehsa-miR-5003-3p
miRNA_derived MI0017869
TechniqueKaryotyping
PMID15650228
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