Primary information |
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Humcfs Id | Humcfs_3187 |
chromosome_number | chromosome11 |
name | FRA11H |
chrlocation | 63400001-77100000 |
cytoband | 11q13 |
type | Aphidicolin |
frequency | Common |
gene_ensembl_id | ENSG00000173898 |
gene_name | SPTBN2 |
havana_transcript_id | OTTHUMT00000393892 |
gene_location | 66685248-66728959 |
gene_orientation | - |
exon_id | ENSE00002188137, ENSE00001187863, ENSE00001187869, ENSE00001187875, ENSE00003530298, ENSE00003556967, ENSE00003483256, ENSE00001187901, ENSE00003663248, ENSE00003622224, ENSE00001187927, ENSE000011879 |
exon_number | 38 |
gene_description | spectrin, beta, non-erythrocytic 2 |
disease_description | Ataxia, 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_location | NA |
miRNA_strand | NA |
miRNA_id | NA |
miRNA_name | NA |
miRNA_derived | NA |
Technique | Karyotyping |
PMID | 23852038 |
Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |