As iam studying Mutations in PIK3CA gene in Breast Cancer so I want to know the location of H1047R mutation whether it is found on Exon 20 or Exon 21? As in literature these mutation found in exon 20 but when i saw the location accordind to nucleotide number in NCBI..these are found in Exon 21...
The database keeps on modifying according to discovery of new genes and sequences, so it doesn't matter position in exon bur u should more clear with protein position, where I found this mutation at:
Chromosome 3:179234297 (forward strand) with rs121913279
you may follow this link for more information,
http://www.ensembl.org/Homo_sapiens/Variation/Context?db=core;g=ENSG00000121879;r=3:179148114-179240093;t=ENST00000263967;v=rs121913279;vdb=variation;vf=24024270
Thank you very much for your concerns... !! we are studying mutations at genomic level and designing panel for HOT SPOT mutations in different exons of PI3KCA gene, which need their exact location. SNP data base showing "Kinase domain: Exon 21 (coding exon 20)" 3140A>G (H1047R) polymorphism.
- Badges
- Science topic
- Similar topics
- Biological Science
- Molecular Cell Biology
- Culture Cells
- Cell Line