Mutation Details for c.3148C>G

cDNA Name c.3148C>G 
Protein Name p.Pro1050Ala 
Exon or Intron exon 20 
Other Details This mutation was identified by DGGE analysis and confirmed by DNA Sequencing 
Contributors and Institutes
Angius A. - Pediatria – Laboratorio di Genetica Molecolare – Università degli Studi di Perugia - Italy
Stasi M. - Pediatria – Laboratorio di Genetica Molecolare – Università degli Studi di Perugia - Italy
Bitetti M. - Pediatria – Laboratorio di Genetica Molecolare – Università degli Studi di Perugia - Italy
Furbetta M. - Pediatria – Laboratorio di Genetica Molecolare – Università degli Studi di Perugia - Italy
  
Submitted Phenotype Details The above mutation was detected in an Italian man studied for couple’s infertility. He had normal semen analysis. 
Reference  

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The Database was last updated at Apr 25, 2011