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CFTR Gene
Genomic DNA Sequence
mRNA(cDNA) and Polypeptide Sequence
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Mouse CFTR Genomic Sequence
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Mutation Details for c.1510G>C
cDNA Name
c.1510G>C
Protein Name
p.Glu504Gln
Exon or Intron
exon 11
Legacy Exon or Intron
exon 10
Legacy Name
E504Q
Other Details
Contributors
Baranov V 1991-05-10
Institute
Institute of Obstetrics & Gynaecology Leningrad, Russia
Submitted Phenotype Details
Reference
Baranov (NL#34,#35)
To check if there are any papers published about this mutation/variant on PubMed, please
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The Database was last updated at Apr 25, 2011
