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Rs332

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Merged intors121909001
Orientationplus
is asnp
is mentioned by
dbSNPrs332
PheGenIrs332
hapmaprs332
1000 genomesrs332
hgdprs332
ensemblrs332
gopubmedrs332
geneviewrs332
scholarrs332
googlers332
pharmgkbrs332
gwascentralrs332
openSNPrs332
23andMers332
23andMe allrs332
SNP Nexus

SNPshotrs332
SNPdbers332
MSV3drs332
StatusMerged into rs121909001
GeneCFTR
Chromosome7
Orientationplus
Position117559593
ReferenceGRCh38 38.1/141
Max Magnitude0.5
Geno Mag Summary
(TCT;TCT) 0.5 Homozygous for F508C variant of cystic fibrosis gene; benign
(TTT;TCT) 0.5 Heterozygous for F508C variant of cystic fibrosis gene; benign
(TTT;TTT) 0 normal form
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.OMIM[PMID 1977306OA-icon.png]

Neighborrs213950
Distance114