Have questions? Visit https://www.reddit.com/r/SNPedia

PSEN2

From SNPedia

is agene
is mentioned by
Full namepresenilin 2
EntrezGene5664
PheGenI5664
VariationViewer5664
ClinVarPSEN2
GeneCardsPSEN2
dbSNP5664
SADR5664
HugeNav5664
wikipediaPSEN2
googlePSEN2
gopubmedPSEN2
EVSPSEN2
HEFalMpPSEN2
MyGene2PSEN2
23andMePSEN2
UniProtP49810
EnsemblENSG00000143801
OMIM600759
# SNPs20
 Max MagnitudeChromosome positionSummary
rs11405226,881,976
rs1295645226,871,336
rs1378527030226,885,546
rs1800680226,888,283
rs2006701350226,888,972
rs200754713226,888,954
rs2073489226,875,970
rs289363799226,888,977
rs289363809226,885,546
rs617577811.5226,888,112Mutation in the PSEN2 Gene
rs637498519226,885,545
rs637498848226,888,979
rs637500489226,883,817
rs637501104226,895,548
rs637501976.6226,885,570
rs637502159226,885,603
rs637506668226,895,521
rs637508120226,885,623
rs6759226,882,036
rs8383226,895,849

PSEN2 encodes Presenilin-2, a component of gamma-secretase which cleaves amyloid precursor protein. Variants are associated with early-onset familial Alzheimer disease and idiopathic dilated cardiomyopathy.