Detailed description page of humcfs

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PLOD3 details
Primary information
gene_namePLOD3
Humcfs IdHumcfs_2058
chromosome_numberchromosome7
nameFRA7F
chrlocation98000001-107400000
cytoband7q22
typeAphidicolin
frequencyCommon
gene_ensembl_idENSG00000106397
havana_transcript_idOTTHUMT00000347474
gene_location101216521-101218420
gene_orientation-
exon_idENSE00001669654, ENSE00003630020, ENSE00001679482, ENSE00001649493, ENSE00001735349
exon_number5
gene_descriptionprocollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
disease_descriptiongamma-Glutamyltransferase deficiency,Epidermolysis Bullosa Simplex,Bone Fragility with Contractures, Arterial Rupture, and Deafness,Bronchopulmonary Dysplasia,Borderline Personality Disorder,Hypothyroidism
miRNA_location102293113-102293130
miRNA_strand+
miRNA_idMIMAT0016913
miRNA_namehsa-miR-4285
miRNA_derived MI0015891
TechniqueKaryotyping
PMID3290488
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