CLN5
From SNPedia
is a | gene |
is | mentioned by |
Full name | ceroid-lipofuscinosis, neuronal 5 |
EntrezGene | 1203 |
PheGenI | 1203 |
VariationViewer | 1203 |
ClinVar | CLN5 |
GeneCards | CLN5 |
dbSNP | 1203 |
Diseases | CLN5 |
SADR | 1203 |
HugeNav | 1203 |
wikipedia | CLN5 |
CLN5 | |
gopubmed | CLN5 |
EVS | CLN5 |
HEFalMp | CLN5 |
MyGene2 | CLN5 |
23andMe | CLN5 |
UniProt | O75503 |
OMIM | 608102 |
# SNPs | 42 |
Max Magnitude | Chromosome position | Summary | |
---|---|---|---|
rs104894385 | 0 | 76,992,176 | |
rs104894386 | 0 | 76,995,077 | |
rs1057516220 | 0 | 76,992,231 | |
rs1057516390 | 0 | 76,995,901 | |
rs1057516814 | 0 | 76,992,171 | |
rs1057517134 | 0 | 76,992,253 | |
rs121908292 | 0 | 77,000,799 | |
rs148862100 | 0 | 77,000,866 | |
rs202146713 | 0 | 76,995,233 | |
rs267606738 | 0 | 76,995,119 | |
rs28940280 | 0 | 77,000,580 | |
rs386833963 | 0 | 77,000,771 | |
rs386833964 | 0 | 77,000,816 | |
rs386833965 | 0 | 77,000,817 | |
rs386833966 | 0 | 77,000,828 | |
rs386833967 | 3 | 77,000,848 | |
rs386833968 | 0 | 77,000,882 | |
rs386833969 | 5 | 77,000,920 | |
rs386833970 | 0 | 76,992,242 | |
rs386833971 | 0 | 76,995,175 | |
rs386833972 | 0 | 76,995,939 | |
rs386833973 | 0 | 76,995,942 | |
rs386833974 | 0 | 76,995,980 | |
rs386833975 | 0 | 76,995,990 | |
rs386833976 | 0 | 76,996,008 | |
rs386833977 | 0 | 76,996,028 | |
rs386833978 | 0 | 76,996,035 | |
rs386833979 | 0 | 76,996,084 | |
rs386833980 | 0 | 76,996,086 | |
rs386833981 | 0 | 77,000,517 | |
rs386833982 | 0 | 77,000,664 | |
rs386833983 | 0 | 77,000,700 | |
rs546989392 | 0 | 76,996,010 | |
rs61504484 | 0 | 76,992,067 | |
rs730882146 | 0 | 77,000,680 | |
rs750935331 | 0 | 77,000,850 | |
rs764495616 | 0 | 77,000,685 | |
rs786204644 | 0 | 77,000,669 | |
rs786205211 | 0 | 76,995,076 | |
rs794729218 | 0 | 76,995,933 | |
rs796052345 | 0 | 77,000,959 | |
rs869312751 | 0 | 76,996,109 |
CLN5 encodes a transmembrane protein.
Mutations cause neuronal ceroid lipofuscinosis, type 5. Many disease SNPs are known.