Mutation Details for c.2057C>A

cDNA Name c.2057C>A 
Protein Name p.Ser686Tyr 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name S686Y 
Other Details  
Contributors Angius A, Bitetti M, Furbetta M.    2006-05-12
Institute Pediatria, Laboratorio di Genetica Molecolare, Universit√† degli Studi di Perugia, Italy. 
Submitted Phenotype Details This mutation was identified in a adult Italian man with asthenospermia studied for couple?s infertility. The above mutation was detected by DGGE analysis and confirmed by DNA sequencing.  

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The Database was last updated at Apr 25, 2011