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TPP1

From SNPedia

is agene
is mentioned by
Full nametripeptidyl peptidase I
Other namesCLN2
EntrezGene1200
PheGenI1200
VariationViewer1200
ClinVarTPP1
GeneCardsTPP1
dbSNP1200
SADR1200
HugeNav1200
wikipediaTPP1
googleTPP1
gopubmedTPP1
EVSTPP1
HEFalMpTPP1
MyGene2TPP1
23andMeTPP1
UniProtO14773
EnsemblENSG00000166340
OMIM607998
# SNPs30
 Max MagnitudeChromosome positionSummary
rs11945595306,616,057
rs11945595406,616,056
rs11945595506,617,040
rs11945595606,615,256
rs11945595706,616,696
rs11945595806,616,690
rs12190819506,618,776
rs12190820006,615,442
rs12190820506,617,057
rs20218905706,617,695
rs2894057306,617,046
rs39812295906,615,199
rs55352211806,617,338
rs5614412506,617,154
rs74608569606,619,191
rs75042888206,616,375
rs75544579006,616,513
rs75656476706,617,627
rs75908058106,618,809
rs76316281206,616,720
rs77823265006,616,411
rs78620455306,614,865
rs78620475306,615,217
rs79605343906,616,714
rs79605344006,616,702
rs79605344406,614,638
rs86430950506,615,220
rs86902527406,617,353
rs87885533106,617,319

TPP1(CLN2) encodes tripeptidyl peptidase, a lysosomal enzyme.

Mutations cause Neuronal ceroid lipofuscinosis, and Spinocerebellar ataxia.