Detailed description page of humcfs
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Humcfs_114 details |
| Primary information | |
|---|---|
| Humcfs Id | Humcfs_114 |
| chromosome_number | chromosome1 |
| name | FRA1A |
| chrlocation | 1-28000000 |
| cytoband | 1p36 |
| type | Aphidicolin |
| frequency | Common |
| gene_ensembl_id | ENSG00000184908 |
| gene_name | CLCNKB |
| havana_transcript_id | OTTHUMT00000099351 |
| gene_location | 16052323-16057308 |
| gene_orientation | + |
| exon_id | ENSE00001639784, ENSE00001295583, ENSE00001644923, ENSE00001749252, ENSE00001601381 |
| exon_number | 5 |
| gene_description | chloride channel, voltage-sensitive Kb |
| disease_description | Somatotropin deficiency,BARTTER SYNDROME, TYPE 4A,BARTTER SYNDROME, TYPE 4B,Bartter Syndrome, Type 3, with Hypocalciuria,Gitelman Syndrome,Nephrocalcinosis,Hypocalciuria,Hypercalciuria,Sensorineural Hearing Loss (disorder),Renal tubular acidosis,Hypokalemic alkalosis,Conn Syndrome,Bartter syndrome, type 3,Kidney Diseases,Essential Hypertension,Hearing Loss, Mixed Conductive-Sensorineural,Congenital deafness,Isolated somatotropin deficiency,Kidney Failure, Chronic,Hypertensive disease,Bartter Disease,Nephrogenic Diabetes Insipidus,Nephrogenic Diabetes Insipidus, Type I |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | Karyotyping |
| PMID | 1322577 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |