Home Help

rSNP_Reports: Examples of the predicted TF-sites damaged/appeared due to SNP's

Mutation -14T/C up to 10-fold reduces the protein C gene promoter basal transcription in HeLa cell (type I protein C deficiency)

The -376G/A in human TNF gene promoter produced the novel 95kD complex at MonoMac6 cell nuclear extract (severe malaria)

The -133C/G in human platelet glycoprotein Ibbeta gene promoter disrupts the WT-type DNA/protein complex in gel (Bernard-Soulier syndrome)

Two SNP's, M1=663G:A and M2=666G:T, in #6 intron of the TDO2 gene disrupt site YY1 (drug-dependence, Tourette syndrome, attention deficit)

Single SNP, M1=663G:A, in #6 intron of the TDO2 gene may produce site GR (drug-dependence, Tourette syndrome, attention deficit)

Single SNP, M2=666G:T, in #6 intron of the TDO2 gene may produce site HNF3 (drug-dependence, Tourette syndrome, attention deficit)

Single {296A:C} and dounle {288C:G & 296A:C} SNPs in #2 intron of K-ras gene may disrupt GATA-like site (mutagen-induced tumor susceptibility in lung)

Single -114C/T in distal CCAAT-box of Gg-globin gene promoter may damage the site CP-1 (Hereditary persistence of fetal haemoglobin)

Single -94C/G in the Factor VII gene promoter may damage the site Sp1 (severe Factor VII deficiency)