" /> APOE*2 Allele - CISMeF





Preferred Label : APOE*2 Allele;

NCIt synonyms : APOE-epsilon2 Allele; ApoE2; APOE2 Allele; APOE*E2; Apolipoprotein E2 Allele; NM_000041.4:c.526C T; Apolipoprotein E*2 Allele;

NCIt definition : Human APOE*2 allele is located in the vicinity of 19q13.2 and is approximately 4 kb in length. This allele, which encodes apolipoprotein E2 protein, plays a role in lipid transport and triglyceride metabolism. The allele is associated with type III hyperlipoproteinemia.;

NCIt note : APOE*2 allele is characterized by one point mutation, c.526C T. The ancestral thymine at position 388 must also be present.;

NCI Metathesaurus CUI : CL1793633;

GenBank Accession Number : NM_000041;

SNP ID : rs7412;

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16/05/2024


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