Mutation Details for c.950T>C

cDNA Name c.950T>C 
Protein Name p.Val317Ala 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name V317A 
Other Details This movel polymorphism was identified in exon 7. The nucleotide change is T->C at nucleotide position 1082 leading to V317A. 
Contributors Ferec C, Quere I, Verlingue C, Audrezet MP< Raguenes O, Guillermit H, Mercier B   1993-05-18
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was identified through neonatal screening for hypertrypsinemia. (Scotet et al. 2001, pers. corr. Ferec) 
Reference FĂ©rec et al. (NL#55) 

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The Database was last updated at Apr 25, 2011