LongevityMap variant
Entry Details
- Longevity Association
- Non-significant
- Population
- Danish
- Study Design
- 592 SNPs from 77 genes involved in nine sub-processes were analyzed in 1089 long-lived and 736 middle-aged Danes. Then, a replicated study was carried out in a German cohort.
- Conclusions
- The results did not remain significant after correction. The findings drawn from the Danish cohort were not replicated in German samples.
- Identifier
- rs12680687
- In Other Studies (IDs)
- 1953
- Cytogenetic Location
- 8q21.3
- UCSC Genome Browser
- View 8q21.3 on the UCSC genome browser
Gene details
- HGNC symbol
- NBN
- Aliases
- ATV; NBS; P95; NBS1; AT-V1; AT-V2
- Common name
- nibrin
- Description
- Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 13
- OMIM
- 602667
- Ensembl
- ENSG00000104320
- UniProt/Swiss-Prot
- A0A0C4DG07_HUMAN
- Entrez Gene
- 4683
- UniGene
- 492208
- HapMap
- View on HapMap