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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.3238A>C
cDNA Name
c.3238A>C
Protein Name
p.Lys1080Gln
Exon or Intron
exon 20
Legacy Exon or Intron
exon 17b
Legacy Name
K1080Q
Other Details
Contributors
E. Rohlfs
Institute
Submitted Phenotype Details
suspected diagnosis of CF
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