Hi, I'm trying to figure out whether there's an existing semi-automated process/software that can translate many human gene mutations/polymorphisms into dbSNP entries (when they exist) presumably via resolving them first to protein and/or gene Refseq offsets (since the literature does not provide the flanking sequences needed to map with BLAST).
Here's an example: "Amir et al. (1999) identified a 390C-T transition in the MECP2 gene, resulting in an arg106-to-trp (R106W) substitution.” which maps to dbSNP rs28934907 (http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=28934907). Is there existing software or a semi-automated process that can take something like 'R106W' substitution mutation in human MECP2 gene (with mutation format adjustments or translated into Entrez Gene ID as needed) and produce either the MECP2 gene Refseq flanking sequence to map to dbSNP/genome or a dbSNP entry directly? Dan _______________________________________________ Genome maillist - [email protected] https://lists.soe.ucsc.edu/mailman/listinfo/genome
