Detailed description page of humcfs
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Humcfs_3371 details |
| Primary information | |
|---|---|
| Humcfs Id | Humcfs_3371 |
| chromosome_number | chromosome12 |
| name | FRA12A |
| chrlocation | 46400001-54900000 |
| cytoband | 12q13.1 |
| type | Folic acid |
| frequency | Rare |
| gene_ensembl_id | ENSG00000167552 |
| gene_name | TUBA1A |
| havana_transcript_id | OTTHUMT00000404554 |
| gene_location | 49185925-49189078 |
| gene_orientation | - |
| exon_id | ENSE00002403252, ENSE00003365780, ENSE00003526219, ENSE00002364879 |
| exon_number | 4 |
| gene_description | tubulin, alpha 1a |
| disease_description | Congenital Abnormality,Agyria,Malformations of Cortical Development,Agenesis of corpus callosum,Scoliosis, unspecified,Congenital anomaly of brain,Behavior Disorders,Lissencephaly 3,Cerebellar Hypoplasia,Myocardial Ischemia,Microlissencephaly,Lesion of brain,Congenital scoliosis,Mental Retardation,Microcephaly,Pachygyria,Cortical Dysplasia,Polymicrogyria,Congenital microcephaly,Classical Lissencephaly,Schizophrenia,Lissencephaly,Acquired scoliosis,Malformations of Cortical Development, Group II,Pulmonary Sclerosing Hemangioma |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | FISH |
| PMID | 8833161 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |