Detailed description page of humcfs

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DMPK details
Primary information
gene_nameDMPK
Humcfs IdHumcfs_4053
chromosome_numberchromosome19
nameFRA19A
chrlocation32400001-59128983
cytoband19q13
type5-azacytidine
frequencyCommon
gene_ensembl_idENSG00000104936
havana_transcript_idOTTHUMT00000460575
gene_location45769736-45782479
gene_orientation-
exon_idENSE00002811897, ENSE00003615528, ENSE00003610901, ENSE00003592282, ENSE00003494269, ENSE00003653656, ENSE00003525807, ENSE00001157000, ENSE00003484367, ENSE00003534388, ENSE00003494201, ENSE000036721
exon_number15
gene_descriptiondystrophia myotonica-protein kinase
disease_descriptionMyotonic Dystrophy,Abnormal mental state,Huntington Disease,Myotonic Disorders,Paresis,Congenital Structural Myopathy,3-Methylglutaconic aciduria type 3,Multisystem disorder,Myopathy,Bilateral cataracts (disorder),Muscular Dystrophy,Ataxia, Spinocerebellar,Congenital Myotonic Dystrophy,Myotonia,Atherosclerosis,Congenital chromosomal disease,Adrenomyeloneuropathy,Muscular Atrophy,cardiac event,Charcot-Marie-Tooth disease, X-linked, 1,Mental handicap,Optic Atrophy,Hypertrophic Cardiomyopathy,Hypogonadism,Congenital Fiber Type Disproportion,Adrenoleukodystrophy,Celiac Disease,Centronuclear myopathy,myotonic muscular dystrophy,Interstitial fibrosis,Dystrophia myotonica 2,Diabetes Mellitus,Cataract,Focal glomerulosclerosis,Neuromuscular Diseases,Intellectual Disability,Azoospermia,Schizophrenia,Syncope, Cardiogenic,Muscle Weakness
miRNA_location55239912-55239933
miRNA_strand-
miRNA_idMIMAT0027505
miRNA_namehsa-miR-6802-3p
miRNA_derived MI0022647
TechniqueKaryotyping
PMID2579891
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