Rs201337954

rs201337954, also known as Arg401Ter or R401X, is a mutation in the NGLY1 gene encoding N-glycanase. In the orientation currently given in dbSNP, which on the forward strand compared to the gene which is on the bottom strand, the rs201337954(A) allele is the quite rare nonsense allele leading to a defective N-glycanase. Carriers of one such allele are generally unaffected, but if the other allele is defective, this leads to congenital disorder of deglycosylation (CDDG).

Be wary of ambiguous flips with this SNP due to orientation issues.