Detailed description page of humcfs

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NGLY1 details
Primary information
gene_nameNGLY1
Humcfs IdHumcfs_1184
chromosome_numberchromosome3
nameFRA3A
chrlocation23900001-26400000
cytoband3p24.2
typeAphidicolin
frequencyCommon
gene_ensembl_idENSG00000151092
havana_transcript_idOTTHUMT00000340835
gene_location25719276-25783381
gene_orientation-
exon_idENSE00001674648,
exon_number12
gene_descriptionN-glycanase 1
disease_descriptionDysmorphic features,Scoliosis, unspecified,Neuropathy,Liver diseases,Congenital scoliosis,Acquired scoliosis,CONGENITAL DISORDER OF DEGLYCOSYLATION
miRNA_location25664875-25664891
miRNA_strand-
miRNA_idMIMAT0018960
miRNA_namehsa-miR-4442
miRNA_derived MI0016785
TechniqueKaryotyping
PMID6430783
Get Gene Informations in: Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank