Detailed description page of humcfs
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ATP6V1B1 details |
| Primary information | |
|---|---|
| gene_name | ATP6V1B1 |
| Humcfs Id | Humcfs_771 |
| chromosome_number | chromosome2 |
| name | FRA2E |
| chrlocation | 68600001-75000000 |
| cytoband | 2p13 |
| type | Aphidicolin |
| frequency | Common |
| gene_ensembl_id | ENST00000433895 |
| havana_transcript_id | OTTHUMT00000332239 |
| gene_location | 70963622-70965119 |
| gene_orientation | + |
| exon_id | ENSE00001797168, ENSE00001597209, ENSE00003650183, ENSE00003601295, ENSE00001677995 |
| exon_number | 5 |
| gene_description | ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 |
| disease_description | Hypertensive disease,Hypercalciuria,Neural hearing loss,Distal Renal Tubular Acidosis,Sensorineural Hearing Loss (disorder),Osteopetrosis,Renal Tubular Acidosis, Type II,Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness,Enlarged Vestibular Aqueduct,Hearing Loss, Mixed Conductive-Sensorineural,Medullary sponge kidney,RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE,Renal tubular acidosis |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | Karyotyping |
| PMID | 15241441 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |