Detailed description page of humcfs
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Humcfs_3618 details |
| Primary information | |
|---|---|
| Humcfs Id | Humcfs_3618 |
| chromosome_number | chromosome12 |
| name | FRA12E |
| chrlocation | 109000001-133851895 |
| cytoband | 12q24 |
| type | Aphidicolin |
| frequency | Common |
| gene_ensembl_id | ENSG00000111245 |
| gene_name | MYL2 |
| havana_transcript_id | OTTHUMT00000404679 |
| gene_location | 110910918-110920575 |
| gene_orientation | - |
| exon_id | ENSE00002362597, ENSE00000755126, ENSE00000755127, ENSE00002336583, ENSE00001295320, ENSE00002335583 |
| exon_number | 6 |
| gene_description | myosin, light chain 2, regulatory, cardiac, slow |
| disease_description | Familial dilated cardiomyopathy,Brain Neoplasms,Hypertensive disease,Congenital Fiber Type Disproportion,Glioma,Hypertrophic Cardiomyopathy,Cardiomegaly,Congenital diaphragmatic hernia,Renal Cell Carcinoma,Spastic syndrome,Cardiomyopathy, Hypertrophic, Familial,Cardiomyopathies,Congenital hypoplasia of lung,Cardiomyopathy, Familial Idiopathic,CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10,Heart Diseases,Cardiomyopathy, Dilated,Diabetes Mellitus, Non-Insulin-Dependent,Coronary heart disease |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | Karyotyping |
| PMID | 14526166 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |