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CLN5

From SNPedia

is agene
is mentioned by
Full nameceroid-lipofuscinosis, neuronal 5
EntrezGene1203
PheGenI1203
VariationViewer1203
ClinVarCLN5
dbSNP1203
SADR1203
HugeNav1203
wikipediaCLN5
googleCLN5
gopubmedCLN5
EVSCLN5
HEFalMpCLN5
MyGene2CLN5
23andMeCLN5
UniProtO75503
OMIM608102
# SNPs36
 Max MagnitudeChromosome positionSummary
i5012678
rs104894385076,992,176
rs104894386076,995,077
rs121908292077,000,799
rs148862100077,000,866
rs202146713076,995,233
rs267606738076,995,119
rs28940280077,000,580
rs386833963077,000,771
rs386833964077,000,816
rs386833965077,000,817
rs386833966077,000,828
rs386833967077,000,848
rs386833968077,000,882
rs386833969577,000,920
rs386833970076,992,242
rs386833971076,995,175
rs386833972076,995,939
rs386833973076,995,942
rs386833974076,995,980
rs386833975076,995,990
rs386833976076,996,008
rs386833977076,996,028
rs386833978076,996,035
rs386833979076,996,084
rs386833980076,996,086
rs386833981077,000,517
rs386833982077,000,664
rs386833983077,000,700
rs546989392076,996,010
rs61504484076,992,067
rs730882146077,000,680
rs786204644077,000,669
rs786205211076,995,076
rs79472921876,995,933
rs79605234577,000,959

CLN5 encodes a transmembrane protein.

Mutations cause neuronal ceroid lipofuscinosis, type 5. Many disease SNPs are known.