Sure to distinguish between individuals with the

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sure to distinguish between individuals with the disease, those that are carriers for the disease, and individuals who do not possess a copy of the disease allele. *Inserted below 2. Look closely at the section on “Allelic Variants.” Is the delta-F508 mutation the only known alteration of the CFTR gene? No, the allelic variants have 137 selected examples. Some other mutations include CFTR, PHE508DEL, CFTR, ILE507DEL, and CFTR, GLN493TER. 3. As you look at the list of Allelic Variants (starting with .001), how does the information in brackets (e.g.,[CFTR, PHE508DEL]) describe each mutation? When clicking the information in the brackets, you get the details for the selected variant. These include the most severe consequence, alleles, location, co-located variant, evidence status, clinical significance, HGVS names, variant with equivalent alleles, synonyms, and even more about the variant (overlaps, genotypes, other features). You can also explore the genomic context, gene regulation, flanking sequence, population genetics, phenotype data, etc.
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4. The CFTR gene contains how many exons? How many introns? Sketch a rough diagram of the exon/intron structure of the CFTR gene.
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  • Spring '18
  • Kevin Lee
  • DNA, RNA, CFTR, CFTR gene

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