Good morning Maria Elena, Thank you for bringing this to our attention. Somehow rs119489101 is missing from dbSNP's flanking sequence fasta files for build 135, so it was dropped from our pipeline despite appearing in other files. We often see some SNPs dropped for this reason, and the usual explanation is that a SNP has been retracted or merged, or is so new that it hasn't yet propagated into all of their dump files. However, this SNP looks fine on dbSNP's web site (http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119489101), so it should have been included in the files that we downloaded.
I will contact dbSNP about this, and try to find similar cases. If you would like to contact dbSNP directly too, then email [email protected] . Thanks again, and if you have more questions, please send them to us at [email protected] . Angie ----- Original Message ----- > From: "Maria elena Sana" <[email protected]> > To: [email protected] > Sent: Monday, January 23, 2012 2:06:52 AM > Subject: [Genome] different annotation of snv in snp database 132/135 > Good morning, > I was looking for a mutation in EFEMP2 at position chr11:65,638,826. > Why in snp132 database I find that it is a known SNP reported as > rs119489101, and in snp135 it is not reported as rs? > Thanx a lot, > Maria Elena > > -- > Dott.ssa Maria Elena Sana > Università di Ferrara > Dipartimento di Morfologia ed Embriologia > Via Fossato di Mortara, 70 > (Viale Eliporto presso CUBO) > 44121 - Ferrara > Italy Phone 0532-455851 > Mail [email protected] > > *" Wherever you go, whatever you do, always bring a bioinformatic with > you." > * > _______________________________________________ > Genome maillist - [email protected] > https://lists.soe.ucsc.edu/mailman/listinfo/genome _______________________________________________ Genome maillist - [email protected] https://lists.soe.ucsc.edu/mailman/listinfo/genome
