Variant: rs751570713 

    present in Gene: OSGIN2;NBN
    present in Chromosome: 8
    Position on Chromosome: 89935609
    Alleles of this Variant: G/C;T

rs751570713 in OSGIN2;NBN gene and Nijmegen Breakage Syndrome PMID 15758953 2005 Conserved modes of recruitment of ATM, ATR and DNA-PKcs to sites of DNA damage.

PMID 15964794 2005 ATM activation and its recruitment to damaged DNA require binding to the C terminus of Nbs1.