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PARK2 *94A>G Mutation Details

(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

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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