Detailed description page of humcfs

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Humcfs_926 details
Primary information
Humcfs IdHumcfs_926
chromosome_numberchromosome2
nameFRA2J
chrlocation237300001-243199373
cytoband2q37.3
typeAphidicolin
frequencyCommon
gene_ensembl_idENST00000428768
gene_nameKIF1A
havana_transcript_idOTTHUMT00000325517
gene_location240771129-240786364
gene_orientation-
exon_idENSE00001747373, ENSE00001460146, ENSE00000894116, ENSE00001626039, ENSE00001261008, ENSE00002534810, ENSE00001551924, ENSE00001162253, ENSE00000894128, ENSE00001758151
exon_number10
gene_descriptionkinesin family member 1A
disease_descriptionIntellectual Disability,Muscle hypotonia,NEUROPATHY, HEREDITARY SENSORY, TYPE IIC,Nasopharyngeal carcinoma,SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder),Sensory neuropathy,Muscle Spasticity,Tuberous Sclerosis,Spastic Paraplegia, Hereditary,Neuroblastoma,Impaired cognition,Neuropathy, Hereditary Sensory And Autonomic, Type IIA,Cerebellar atrophy,Precancerous Conditions,Central neuroblastoma,Autonomic neuropathy,Neuropathy,Spastic Paraplegia,Diabetes Mellitus,Paraparesis, Spastic,Hereditary Sensory Autonomic Neuropathy, Type 2,MENTAL RETARDATION, AUTOSOMAL DOMINANT 9,Hereditary Sensory and Autonomic Neuropathies,Epilepsy,Squamous cell carcinoma of the head and neck,Hereditary Motor and Sensory-Neuropathy Type II
miRNA_location237510932-237510953
miRNA_strand+
miRNA_idMIMAT0027522
miRNA_namehsa-miR-6811-5p
miRNA_derived MI0022656
TechniqueKaryotyping
PMID1840562
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