Polymorphism: Y318C


Location: 7p22.2

Factor:
- Symbol: PMS2
- Name: PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
- Entrez ID: 5395
- Ensembl ID: ENSG00000122512

Factors:
  • PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) ( 5395 / ENSG00000122512 )

  • Ethnicity: Ashkenazi Jewish
    Age of cases: Centenarians

    Statistics
    - Number of cases/controls: 390 vs 410 (initial)
    - p-value: 0.02 [0.02]
    - Significant: Nominally

    Study Design
    - Classifications: Longevity-Associated
    - Study type: Candidate Region/Gene
    - Technology: Agilent SureSelect in-solution target capture, Agilent eArray, BWA version 0.5.9, Picard, Genome Analysis Toolkit (GATK), iPLEX MassArray assays, MassARRAY Typer, SNP & Variation suite version 7.6.11

    Reference:
    23376243: Discovery of novel non-synonymous SNP variants in 988 candidate genes from 6 centenarians by target capture and next-generation sequencing.

    Choice: Curate
    Created: July 1, 2013, 1:04 p.m.
    Updated: Aug. 8, 2014, 1:31 p.m.

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