Have questions? Visit https://www.reddit.com/r/SNPedia

rs1042077

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common/normal
Make rs1042077(G;G)
Make rs1042077(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position117595001
GeneCFTR
is asnp
is mentioned by
dbSNPrs1042077
dbSNP (old)rs1042077
ClinGenrs1042077
ebirs1042077
HLIrs1042077
Exacrs1042077
Gnomadrs1042077
Varsomers1042077
Maprs1042077
PheGenIrs1042077
Biobankrs1042077
1000 genomesrs1042077
hgdprs1042077
ensemblrs1042077
gopubmedrs1042077
geneviewrs1042077
scholarrs1042077
googlers1042077
pharmgkbrs1042077
gwascentralrs1042077
openSNPrs1042077
23andMers1042077
23andMe allrs1042077
SNPshotrs1042077
SNPdbers1042077
MSV3drs1042077
GWAS Ctlgrs1042077
Max Magnitude0
? (G;G) (G;T) (T;T) 28
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.[PMID 28510592OA-icon.png]


ClinVar
Risk rs1042077(A;A) rs1042077(G;G)
Alt rs1042077(A;A) rs1042077(G;G)
Reference Rs1042077(T;T)
Significance Other
Disease not specified Cystic fibrosis
Variation info
Gene CFTR
CLNDBN not specified Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117235055T>G
CLNSRC HGMD
CLNACC RCV000036519.10, RCV000329705.1,