Detailed description page of humcfs

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SPTBN2 details
Primary information
gene_nameSPTBN2
Humcfs IdHumcfs_3187
chromosome_numberchromosome11
nameFRA11H
chrlocation63400001-77100000
cytoband11q13
typeAphidicolin
frequencyCommon
gene_ensembl_idENSG00000173898
havana_transcript_idOTTHUMT00000393892
gene_location66685248-66728959
gene_orientation-
exon_idENSE00002188137, ENSE00001187863, ENSE00001187869, ENSE00001187875, ENSE00003530298, ENSE00003556967, ENSE00003483256, ENSE00001187901, ENSE00003663248, ENSE00003622224, ENSE00001187927, ENSE000011879
exon_number38
gene_descriptionspectrin, beta, non-erythrocytic 2
disease_descriptionAtaxia, Spinocerebellar,Asthma,SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14,Impaired cognition,Spinocerebellar Degeneration,Aspirin-sensitive asthma with nasal polyps,Machado-Joseph Disease,Cerebellar Diseases,Schizophrenia,Dentatorubral-Pallidoluysian Atrophy,Cardiac Arrest,Neurodegenerative Disorders,Cerebellar degeneration,Ataxia,Cerebellar atrophy,Ataxic,West Syndrome,Cerebellar Ataxia,Spinocerebellar Ataxia Type 5
miRNA_locationNA
miRNA_strandNA
miRNA_idNA
miRNA_nameNA
miRNA_derived NA
TechniqueKaryotyping
PMID23852038
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