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ACSF3

From SNPedia

is agene
is mentioned by
Full nameacyl-CoA synthetase family member 3
EntrezGene197322
PheGenI197322
VariationViewer197322
ClinVarACSF3
dbSNP197322
SADR197322
HugeNav197322
wikipediaACSF3
googleACSF3
gopubmedACSF3
EVSACSF3
HEFalMpACSF3
MyGene2ACSF3
23andMeACSF3
UniProtQ4G176
EnsemblENSG00000176715
OMIM614245
# SNPs13
 Max MagnitudeChromosome positionSummary
rs138680796089,145,311
rs140986055089,102,665
rs141090143089,154,148
rs150487794089,114,436
rs370382601089,100,682
rs387907118089,146,003
rs387907119089,145,312
rs387907120089,114,434
rs387907121089,101,274
rs752104014089,102,643
rs757905943089,101,029
rs761573352089,101,270
rs79605192489,154,194

[PMID 21785126] These results suggest that ACSF3 is a candidate gene for Combined Malonic and Methylmalonic Aciduria, a rare recessive inborn error of metabolism characterised by elevations of urine malonic acid and methylmalonic acid.