CLN8
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) |
| EntrezGene | 2055 |
| PheGenI | 2055 |
| VariationViewer | 2055 |
| ClinVar | CLN8 |
| GeneCards | CLN8 |
| dbSNP | 2055 |
| Diseases | CLN8 |
| SADR | 2055 |
| HugeNav | 2055 |
| wikipedia | CLN8 |
| CLN8 | |
| gopubmed | CLN8 |
| EVS | CLN8 |
| HEFalMp | CLN8 |
| MyGene2 | CLN8 |
| 23andMe | CLN8 |
| UniProt | Q9UBY8 |
| Ensembl | ENSG00000182372 |
| OMIM | 607837 |
| # SNPs | 31 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs104894060 | 0 | 1,780,316 | |
| rs104894064 | 0 | 1,771,124 | |
| rs1057516582 | 0 | 1,771,317 | |
| rs1057516867 | 0 | 1,771,101 | |
| rs137852883 | 0 | 1,771,142 | |
| rs144495588 | 0 | 1,771,553 | |
| rs149308952 | 0 | 1,771,524 | |
| rs188259026 | 0 | 1,771,563 | |
| rs28940569 | 0 | 1,780,495 | |
| rs386834123 | 0 | 1,771,234 | |
| rs386834124 | 0 | 1,771,263 | |
| rs386834125 | 0 | 1,771,281 | |
| rs386834126 | 0 | 1,771,374 | |
| rs386834127 | 0 | 1,771,469 | |
| rs386834128 | 0 | 1,771,518 | |
| rs386834129 | 0 | 1,771,100 | |
| rs386834130 | 0 | 1,771,527 | |
| rs386834131 | 0 | 1,771,561 | |
| rs386834132 | 0 | 1,780,268 | |
| rs386834133 | 0 | 1,780,287 | |
| rs386834134 | 0 | 1,780,317 | |
| rs386834135 | 0 | 1,780,343 | |
| rs386834136 | 0 | 1,780,367 | |
| rs386834137 | 0 | 1,771,120 | |
| rs386834138 | 0 | 1,780,472 | |
| rs386834139 | 0 | 1,771,142 | |
| rs587779411 | 0 | 1,780,498 | |
| rs746645358 | 0 | 1,780,415 | |
| rs756267448 | 0 | 1,771,598 | |
| rs765097897 | 0 | 1,771,262 | |
| rs863224859 | 0 | 1,771,266 |
CLN8 encodes a transmembrane protein.
Mutations cause neuronal ceroid lipofuscinosis, types 8 and 9. Many disease SNPs are known.
