ABCC2 p.Asn801Ile
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PMID: 25111166
[PubMed]
Mak AC et al: "Effects of the absence of apolipoprotein e on lipoproteins, neurocognitive function, and retinal function."
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Sentence
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202
or Chromosome Positiona SIFT Score Allele Frequencyb ABCC2 nsSNV c.T2009C p.I670T Homozygous rs17222632 0 0.0092 APOE fs del c.291delG p.E97fs Homozygous chr19: 45411844 NA NA BUD13 nsSNV c.C1223T p.P408L Heterozygous rs61730763 0.03 0.04 FUT2 fs del c.811delC p.P271fs Heterozygous rs1799761 NA NA LIPC nsSNV c.G409A p.G137R Heterozygous rs199787635 0 0 LRP2 nsSNV c.T1817C p.V606A Heterozygous rs116332504 0 0.03 MCEE nsSNV c.G428A p.R143H Heterozygous rs115175255 0 0.05 PCCA nsSNV c.G925A p.V309M Heterozygous chr13: 100925538 0 NA PLB1 nsSNV c.A2402T p.N801I Heterozygous rs115240682 0.01 0.04 Abbreviations: fs del, frameshift deletion; NA, not applicable; nsSNV, nonsynonymous single-nucleotide variant; SIFT, Sorting Intolerant From Tolerant.
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ABCC2 p.Asn801Ile 25111166:202:558
status: NEW