MFSD8
From SNPedia
is a | gene |
is | mentioned by |
Full name | major facilitator superfamily domain containing 8 |
Other names | CLN7 |
EntrezGene | 256471 |
PheGenI | 256471 |
VariationViewer | 256471 |
ClinVar | MFSD8 |
GeneCards | MFSD8 |
dbSNP | 256471 |
Diseases | MFSD8 |
SADR | 256471 |
HugeNav | 256471 |
wikipedia | MFSD8 |
MFSD8 | |
gopubmed | MFSD8 |
EVS | MFSD8 |
HEFalMp | MFSD8 |
MyGene2 | MFSD8 |
23andMe | MFSD8 |
UniProt | Q8NHS3 |
Ensembl | ENSG00000164073 |
OMIM | 611124 |
# SNPs | 21 |
Max Magnitude | Chromosome position | Summary | |
---|---|---|---|
rs1057518388 | 0 | 127,920,838 | |
rs118203975 | 0 | 127,930,752 | |
rs118203976 | 0 | 127,921,588 | |
rs118203977 | 0 | 127,930,787 | |
rs118203978 | 0 | 127,943,829 | |
rs140948465 | 0 | 127,930,800 | |
rs150418024 | 0 | 127,921,956 | |
rs267607235 | 0 | 127,921,639 | |
rs558274487 | 0 | 127,939,952 | |
rs559155109 | 0 | 127,920,826 | |
rs587778809 | 0 | 127,938,781 | |
rs724159970 | 0 | 127,921,733 | |
rs724159971 | 0 | 127,920,743 | |
rs727502800 | 0 | 127,921,860 | |
rs727502801 | 0 | 127,932,981 | |
rs751010275 | 0 | 127,938,843 | |
rs796052740 | 0 | 127,965,130 | |
rs796052742 | 0 | 127,942,156 | |
rs796052747 | 0 | 127,920,749 | |
rs796052752 | 0 | 127,943,973 | |
rs886041806 | 0 | 127,921,900 |
MFSD8(CLN7) encodes Major facilitator superfamily domain containing 8, a ubiquitous membrane protein.
Mutations cause Neuronal ceroid lipofuscinosis type 7.