Variant: rs539590514 

    present in Gene: RAG2;RAG1
    present in Chromosome: 11
    Position on Chromosome: 36576278
    Alleles of this Variant: A/G

rs539590514 in RAG2;RAG1 gene and Combined Cellular And Humoral Immune Defects With Granulomas PMID 18442948 2008 Clinical application of DNA microarrays: molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency.

PMID 24290284 2014 A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

PMID 11313270 2001 Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome.

rs539590514 in RAG2;RAG1 gene and Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive PMID 11313270 2001 Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome.

PMID 24290284 2014 A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

PMID 18442948 2008 Clinical application of DNA microarrays: molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency.