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PPT1

From SNPedia
(Redirected from CLN1)

is agene
is mentioned by
Full namepalmitoyl-protein thioesterase 1
Other namesCLN1
EntrezGene5538
PheGenI5538
VariationViewer5538
ClinVarPPT1
dbSNP5538
SADR5538
HugeNav5538
wikipediaPPT1
googlePPT1
gopubmedPPT1
EVSPPT1
HEFalMpPPT1
MyGene2PPT1
23andMePPT1
UniProtP50897
EnsemblENSG00000131238
OMIM600722
# SNPs65
 Max MagnitudeChromosome positionSummary
I5012622
I5012623
I5012624
rs137852695540,091,398
rs137852696540,092,409
rs137852697040,092,171
rs137852698040,078,630
rs137852699040,097,210
rs137852700540,089,495
rs137852701040,092,085
rs137852702040,092,498
rs148412181040,080,483
rs386833624740,073,532
rs386833625040,097,125
rs386833626040,097,125
rs386833627040,097,122
rs386833628040,097,114
rs386833629040,092,522
rs386833630040,092,509
rs386833631040,092,507
rs386833632040,092,499
rs386833633040,092,469
rs386833634040,092,462
rs386833635040,092,457
rs386833636040,092,175
rs386833637040,092,150
rs386833638040,092,120
rs386833639040,092,135
rs386833640040,092,120
rs386833641040,092,097
rs386833642040,092,082
rs386833643040,091,402
rs386833644040,091,364
rs386833645040,097,236
rs386833646040,091,349
rs386833647040,089,491
rs386833648040,089,490
rs386833649040,089,456
rs386833650040,089,417
rs386833651040,089,409
rs386833652040,089,408
rs386833653040,080,485
rs386833654040,080,480
rs386833655040,080,474
rs386833656040,080,466
rs386833657040,080,464
rs386833658040,080,458
rs386833659040,078,659
rs386833660040,078,642
rs386833661040,078,621
... further results

PPT1, codes Palmitoyl-protein thioesterase, a small glycoprotein that removes palmitate groups from cysteine residues in lipid-modified proteins.

Mutations cause neuronal Ceroid lipofuscinosis type 1. There are at numerous disease causing SNPs identified.