rs1042077
A SNP in the CFTR gene on chromosome 7. Its most notable genotype is T;T: common/normal
- Gene
- CFTR
- Location
- Chr 7117,595,001 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 11 HapMap populations.
- AverageT;T 31%
- European ancestry (Utah)T;T 37%
- Han Chinese (Beijing)T;T 35%
- Japanese (Tokyo)T;T 44%
- Yoruba (Nigeria)T;T 4%
- African ancestry (Southwest US)T;T 25%
- Chinese (Denver)T;T 30%
- Gujarati IndianT;T 40%
- Luhya (Kenya)T;T 16%
- Mexican ancestry (Los Angeles)T;T 34%
- Maasai (Kenya)T;T 16%
- TuscanT;T 59%
Related
Conditions, medicines and genes
Other CFTR SNPs
- i4000292D;Dcystic fibrosisVery important
- rs74551128A;ACystic fibrosisVery important
- rs113993960-;-Cystic Fibrosis; homozygote for delta F-508 mutationVery important
- rs199826652-;-Cystic Fibrosis; homozygote for delta F-508 mutationVery important
- i4000309A;ACystic FibrosisVery important
- i4000294A;ACystic FibrosisVery important
- i4000296T;TCystic FibrosisVery important
- i4000297A;ACystic FibrosisVery important
Notes
From SNPedia
Show notes, about 130 words
rs1042077, also known as c.2562T>G, T2562G, and p.Thr854=, is a common synonymous polymorphism in the CFTR gene. Since this particular nucleotide change does not change the amino acid at the corresponding codon of the cystic fibrosis protein, and is thus considered a 'silent mutation', the observation that cystic fibrosis patients seem to often have this variant has been puzzling. Researchers in 2017 have published a finding that they feel explains how this silent change results in lowered amount of functional protein - the tRNA responsible for processing the variant codon is relatively rare in lung cells, leading to detrimental changes in protein stability and function. This may be a model for how other silent mutations affect protein function.
Source and license
Adapted from rs1042077 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.