Detailed description page of humcfs
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Humcfs_1456 details |
| Primary information | |
|---|---|
| Humcfs Id | Humcfs_1456 |
| chromosome_number | chromosome5 |
| name | FRA5A |
| chrlocation | 28900001-42500000 |
| cytoband | 5p13 |
| type | BrdU |
| frequency | Common |
| gene_ensembl_id | ENSG00000164190 |
| gene_name | NIPBL |
| havana_transcript_id | OTTHUMT00000366965 |
| gene_location | 37058903-37063978 |
| gene_orientation | + |
| exon_id | ENSE00002031930, ENSE00003548542 |
| exon_number | 2 |
| gene_description | Nipped-B homolog (Drosophila) |
| disease_description | Squamous cell carcinoma,Congenital Heart Defects,Colorectal Neoplasms,Congenital Abnormality,Autism Spectrum Disorders,Roberts-SC phocomelia syndrome,Craniofacial Abnormalities,Eye Manifestations,Ptosis,Blepharoptosis,Developmental Disabilities,Phocomelia,Colonic Neoplasms,Cornelia De Lange Syndrome,Chromosome 5p13 Duplication Syndrome,Hearing problem,Mycoses,Bone Diseases, Developmental |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | Karyotyping |
| PMID | 16981993 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |