Detailed description page of humcfs

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Humcfs_3288 details
Primary information
Humcfs IdHumcfs_3288
chromosome_numberchromosome11
nameFRA11I
chrlocation16100001-21600000
cytoband11p15.1
typeDistamycinA
frequencyRare
gene_ensembl_idENSG00000110756
gene_nameHPS5
havana_transcript_idNA
gene_location18296162-18322198
gene_orientation-
exon_idENSE00002144156, ENSE00003535961, ENSE00003618406, ENSE00003560804, ENSE00003639191, ENSE00003528879, ENSE00003555194, ENSE00003610620, ENSE00003491913, ENSE00002149134
exon_number10
gene_descriptionHPS5, biogenesis of lysosomal organelles complex 2 subunit 2
disease_descriptionAlbinism,Achromasia,Ecchymosis
miRNA_locationNA
miRNA_strandNA
miRNA_idNA
miRNA_nameNA
miRNA_derived NA
TechniqueKaryotyping
PMID3169734
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