Entrez Gene ID | 9184 |
---|---|
Official Gene Symbol | BUB3 (GeneCards) |
Full name | BUB3, mitotic checkpoint protein |
Location | 10q26.13 |
Other ids | Vega : OTTHUMG00000019197 MIM : 603719 HGNC : HGNC:1151 Ensembl : ENSG00000154473 |
Other names | BUB3L, hBUB3 |
Summary | This gene encodes a protein involved in spindle checkpoint function. The encoded protein contains four WD repeat domains and has sequence similarity with the yeast BUB3 protein. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] |
Found 10 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
13831 | 9184 | BUB3 | 10 | 125190692 | 125190692 | Asymptomatic | HiSeq X Ten |
13925 | 9184 | BUB3 | 10 | 124960005 | 124960005 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
13928 | 9184 | BUB3 | 10 | 125259816 | 125259816 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
13945 | 9184 | BUB3 | 10 | 125217645 | 125217645 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
14062 | 9184 | BUB3 | 10 | 124954846 | 124954846 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
14257 | 9184 | BUB3 | 10 | 125287045 | 125287045 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
14269 | 9184 | BUB3 | 10 | 125102802 | 125102802 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
14290 | 9184 | BUB3 | 10 | 125091730 | 125091730 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
14504 | 9184 | BUB3 | 10 | 125097352 | 125097352 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
14911 | 9184 | BUB3 | 10 | 124949661 | 124949661 | Xeroderma Pigmentosum | HiSeq X Ten HiSeq 2000 |