Have questions? Visit https://www.reddit.com/r/SNPedia

MFSD8

From SNPedia
(Redirected from CLN7)

is agene
is mentioned by
Full namemajor facilitator superfamily domain containing 8
Other namesCLN7
EntrezGene256471
PheGenI256471
VariationViewer256471
ClinVarMFSD8
GeneCardsMFSD8
dbSNP256471
DiseasesMFSD8
SADR256471
HugeNav256471
wikipediaMFSD8
googleMFSD8
gopubmedMFSD8
EVSMFSD8
HEFalMpMFSD8
MyGene2MFSD8
23andMeMFSD8
UniProtQ8NHS3
EnsemblENSG00000164073
OMIM611124
# SNPs19
 Max MagnitudeChromosome positionSummary
rs1182039750127,930,752
rs1182039760127,921,588
rs1182039770127,930,787
rs1182039780127,943,829
rs1409484650127,930,800
rs1504180240127,921,956
rs2676072350127,921,639
rs5582744870127,939,952
rs5877788090127,938,781
rs7241599700127,921,733
rs7241599710127,920,743
rs7275028000127,921,860
rs7275028010127,932,981
rs7510102750127,938,843
rs7960527400127,965,130
rs7960527420127,942,156
rs7960527470127,920,749
rs7960527520127,943,973
rs8860418060

MFSD8(CLN7) encodes Major facilitator superfamily domain containing 8, a ubiquitous membrane protein.

Mutations cause Neuronal ceroid lipofuscinosis type 7.