GENE NAME | SMC1B |
CHROMOSOME | 22 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000077935 |
UNIPROT ACCESSION NUMBER | Q8NDV3 |
GO MOLECULAR FUNCTION | ['ATP hydrolysis activity', 'DNA binding', 'ATP binding'] |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | hsa04110; hsa04114; R-HSA-1221632; R-HSA-1474165; R-HSA-1500620; R-HSA-1640170 |
3 combinations linked to SMC1B | OLI1722; OLI093; OLI092 |
3 variants linked to SMC1B | SMC1B:c.3530A>T, p.Gln1177Leu; SMC1B:c.662T>C, p.Ile221Thr; SMC1B:c.863A>G, p.Glu288Gly |
1 disease linked to SMC1B | Primary ovarian failure |