Link to the Reference Paper. The accession number of this mRNA is K02100 .
The following files contain the results of information analyses of mutations confirmed or predicted to result in mRNA splicing mutations in OTC1.
These include potential cryptic splice sites.

Donor: sites found that alter the information content of donorsites

Acceptor: sites found that alter the information content of acceptor sites

Unparsable Inconsistencies between the described mutation and the human genome reference sequence, "presently not posted"

Total: sites found that alter the information ocontent of both acceptor and donor sites are listed according to the mutation

Original: : Original Mutation Table

 References:

 

  HUMAN MUTATION Mutation in Brief #547 (2002) Online

  MUTATION IN BRIEF H Intragenic Polymorphisms and Haplotype Analysis in the Ornithine 

  Transcarbamylase (OTC) Gene and Their Relevance For Tracking the Inheritance of OTC Deficiency 

  Consuelo Climent and Vicente Rubio* 

  Instituto de Biomedicina de Valencia (CSIC), Spain

 

 

 

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