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CFTR Gene
Genomic DNA Sequence
mRNA(cDNA) and Polypeptide Sequence
CFTR Domains
Mouse CFTR Genomic Sequence
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Mutation Details for c.2251C>T
cDNA Name
c.2251C>T
Protein Name
p.Arg751Cys
Exon or Intron
exon 14
Legacy Exon or Intron
exon 13
Legacy Name
R751C
Other Details
Contributors
E. Rohlfs
Institute
Submitted Phenotype Details
carrier testing
Reference
not published
To check if there are any papers published about this mutation/variant on PubMed, please
click here.
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The Database was last updated at Apr 25, 2011