Detailed description page of humcfs
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MED13L details |
| Primary information | |
|---|---|
| gene_name | MED13L |
| Humcfs Id | Humcfs_3470 |
| chromosome_number | chromosome12 |
| name | FRA12C |
| chrlocation | 114300001-120700000 |
| cytoband | 12q24.2 |
| type | BrdU |
| frequency | Rare |
| gene_ensembl_id | ENSG00000123066 |
| havana_transcript_id | OTTHUMT00000404166 |
| gene_location | 115970690-115975679 |
| gene_orientation | - |
| exon_id | ENSE00002374002, ENSE00003580741, ENSE00002385612, ENSE00002385770 |
| exon_number | 4 |
| gene_description | mediator complex subunit 13-like |
| disease_description | Congenital Heart Defects,Congenital Abnormality,Moderate mental retardation (I.Q. 35-49),Transposition of the Great Arteries, Dextro-Looped 1,Craniofacial Abnormalities,Muscle hypotonia,Intellectual Disability,Tobacco Use Disorder,Mental Retardation,Ventricular Septal Defects,Cognition Disorders,Transposition of Great Vessels,Crohn Disease |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | Karyotyping |
| PMID | 3338802 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |