{{Rsnum
|rsid=332
|Gene=CFTR
|Orientation=plus
|ReferenceAllele=TTT
|MissenseAllele=TCT
|geno1=(TTT;TTT)
|geno2=(TTT;TCT)
|geno3=(TCT;TCT)
|Chromosome=7
|position=117559593
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Status=Merged
|Merged=121909001
|Gene_s=CFTR
}}rs332 is *not* the delta F508 mutation that causes cystic fibrosis.  That mutation is also known as [[rs113993960]] and [[i3000001]] 

delta F508 deletes the CTT that is one basepair upstream of the TTT/TCT in rs332.

[[rs332]](TTT), i.e. 3 T's, is the normal allele. [[rs332]](TCT) is a variation known as F508C, representing a benign change in amino acid 508 from phenylalanine to cysteine.[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421&a=602421_AllelicVariant00025 OMIM]{{PMID|1977306|OA=1
}}

  
[[Category: interesting]]
{{ neighbor
| rsid = 213950
| distance = 114
}}