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CLN8

From SNPedia

is agene
is mentioned by
Full nameceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
EntrezGene2055
PheGenI2055
VariationViewer2055
ClinVarCLN8
dbSNP2055
SADR2055
HugeNav2055
wikipediaCLN8
googleCLN8
gopubmedCLN8
EVSCLN8
HEFalMpCLN8
MyGene2CLN8
23andMeCLN8
UniProtQ9UBY8
EnsemblENSG00000182372
OMIM607837
# SNPs28
 Max MagnitudeChromosome positionSummary
rs10489406001,780,316
rs10489406401,771,124
rs13785288301,771,142
rs14449558801,771,553
rs14930895201,771,524
rs18825902601,771,563
rs2894056901,780,495
rs38683412301,771,234
rs38683412401,771,263
rs38683412501,771,281
rs38683412601,771,374
rs38683412701,771,469
rs38683412801,771,518
rs38683412901,771,100
rs38683413001,771,527
rs38683413101,771,561
rs38683413201,780,268
rs38683413301,780,287
rs38683413401,780,317
rs38683413501,780,343
rs38683413601,780,367
rs38683413701,771,120
rs38683413801,780,472
rs38683413901,771,142
rs58777941101,780,498
rs74664535801,780,415
rs76509789701,771,262
rs86322485901,771,266

CLN8 encodes a transmembrane protein.

Mutations cause neuronal ceroid lipofuscinosis, types 8 and 9. Many disease SNPs are known.