Detailed description page of humcfs

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Humcfs_3920 details
Primary information
Humcfs IdHumcfs_3920
chromosome_numberchromosome17
nameFRA17A
chrlocation10700001-16000000
cytoband17p12
typeDistamycinA
frequencyRare
gene_ensembl_idENSG00000006695
gene_nameCOX10
havana_transcript_idOTTHUMT00000130004
gene_location14069496-14077322
gene_orientation+
exon_idENSE00002705332, ENSE00003685620, ENSE00001719550
exon_number3
gene_descriptionCOX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
disease_descriptionLeigh Disease,Hypertrophic Cardiomyopathy,Cytochrome-c Oxidase Deficiency,Leukodystrophy,Myasthenic Syndrome due to Mutation in SCN4A,Mitochondrial Myopathies,Charcot-Marie-Tooth Disease, Type Ia (disorder),Alzheimer's Disease,Hereditary liability to pressure palsies,Diabetes Mellitus, Non-Insulin-Dependent,Anemia
miRNA_locationNA
miRNA_strandNA
miRNA_idNA
miRNA_nameNA
miRNA_derived NA
TechniqueKaryotyping
PMID2714776
Get Gene Informations in: Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank