https://www.youtube.com/watch?v=qgws_tr41bk /mnt/1T-5e7/mycodehtml/Biology/SangSooKim/Bioinformatics_basic/008/001_SNP_to_PubMed/main.html ================================================================================ Search "reference SNP" ================================================================================ ================================================================================ This SNP is the SNP where base is changed between A and G ================================================================================ This SNP is located in X chromosome's 123886270 ================================================================================ This SNP is located in XIAP gene ================================================================================ This SNP can be "intron variant" or "missense which causes amino acid change" ================================================================================ Click ================================================================================ ================================================================================ The locate of this variant: mRNA, coding part, 608th base pair, G to A ================================================================================ Another transcript, alternative splicing relatinship (in XIAP gene) with above NM, ================================================================================ Protein view, protein from above 2 mRNAs, 2 protein can be different proteins 203th amino acide, Cys to Tyr ================================================================================ ================================================================================ Missense: which causes "change in amino acid" ================================================================================ Non-coding RNA ================================================================================ Different assembly versions have different coordinates ================================================================================ ================================================================================ ================================================================================ This SNP is pathogenic To read the papers, click ClinVar (clinical variantion) From variations like SNP, collected database about the important variations ================================================================================ ================================================================================ NM_001167.3 mRNA in XIAP gene coding position: 608th base pair G to A protein view: 203th protein, cyc to tyr ================================================================================ Pathogenic Conditions ================================================================================ ================================================================================ When you see this SNP in NM, it's missense When you see this SNP in NR, it's intron variant ================================================================================ Click PubMed ================================================================================ ================================================================================ Genet Met: journal name ================================================================================ ================================================================================