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(Table Legend)
Gene
PARK2
Name
g.1382798A>G (relative to nt1 in Reverse Complement of NT_025741.15 Region: 7901234..9288478) g.1382798A>G (relative to nt1 in NG_008289.1)
Alias
*94A>G
Description
Point mutation in 3' untranslated region
Codon Change
Not Applicable
dbSNP ID
rs62637702
Details
Genomic
cDNA
Protein
Observed
g.1382798A>G
Predicted
c.*94A>G
p.?
Region
3'UTR
Notes
Observed in 3 control individuals
Phenotype
(Pathogenic nature unclear)
Frequency
4 Families
Function
No Functional data available
Citations
Sironi F, Parkinsonism Relat Disord 14: 326-33, 2008 Bardien S, Parkinsonism Relat Disord 15: 116-21, 2009
Citation Details
Added: July 22, 2009
ID: 299
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