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Calls with SNP definition incorrect?

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  • Calls with SNP definition incorrect?

    SNP calls for the following positions do not appear to match what the defined mutation should be. Is there an explanation why these don't match?

    Position Sname AltName MutDef Call Kit#
    15027529 M201 PF2957 (G->T) M201 (T->G) M-01
    14624254 L128 PF3499 (T->C) L128 (C->T) M-01
    17860729 L763 YSC0268 (G->A)L763 (A->G) M-01
    22299844 PF6512 (C->T) PF6512 (T->C) N4380

  • #2
    According to Ybrowse, at M201 G is ancestral, T is derived. Any source that says the opposite is perhaps using the so-called standard reference (which is a bizarre combination of R1b and G) rather than the reconstructed ancestral lineage (which starts with YxA).

    Another possibility is that some sources may be considering the other, complimentary strand of the DNA.
    Last edited by lgmayka; 6th March 2014, 02:33 PM.