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  • Old notation for variation

    Hi, all!

    I am confused with the following notations for SNPs:
    E-selectin +G98T, +A561C
    IL-10 gene promoter -592A
    TNF-alpha promoter -857CC
    TIM3 GT + TT
    IL-1ß-2023 C*
    TNF-alpha C857T
    MBL codon 52 'CC' and 'CT'
    GSTP1 val/val
    CXCL10 G-201A
    IL-18 promoter -607A/A

    These are probably old notations for SNPs used without official definition.
    I can't figure out how I can locate those variations in the reference sequence.

  • #2
    That syntax looks a bit strange!

    E-selectin +G98T, +A561C

    Probably means a G was changed to a T at position 98 (nucleotide), and an A=>C at position 561 in the E-selectin gene. The problem is, you need to know what build and version of the annotation was used!

    IL-10 gene promoter -592A
    Negative coordinate relative to start of CDS makes some sense, as it is in a promoter.

    The rest just get more bizarre!

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