Variant: rs151340617 

    present in Gene: C2-AS1;C2;CYP21A2
    present in Chromosome: 6
    Position on Chromosome: 31943254
    Alleles of this Variant: G/A

rs151340617 in C2-AS1;C2;CYP21A2 gene and COMPLEMENT COMPONENT 2 DEFICIENCY PMID 9670930 1998 A novel type II complement C2 deficiency allele in an African-American family.

PMID 8621452 1996 Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 --> Phe; Gly444 --> Arg) cause impaired C2 secretion.