SORL1 c.3580+74C>G (SNP 20)

Other Names: SNP 20


Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37/hg19
Position: Chr11:121448183 C>G
dbSNP ID: rs3824966
Coding/Non-Coding: Non-Coding
DNA Change: Substitution
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Intron 25

Last Updated: 18 Jul 2023


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Further Reading

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Protein Diagram

Primary Papers

  1. . The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nat Genet. 2007 Feb;39(2):168-77. PubMed.

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