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Convertion Of Mutation Names And Amino Acid Changes To Rs

Hi! I have a list of genes and mutations in them (mostly disease associated). Bu I need to batch convert it into DbSNP RS#. Some of mutations look's like amino acid change and position, others like mutation, it's an example for ASL gene:

ASL :Q354X, V178M, R385C, R193Q, Q116X, IVS5+1G>A, D87G

from my own findings:

  1. http://www.ncbi.nlm.nih.gov/guide/howto/view-all-snps/ - easy way to get all amino-acid changing snp's in gene, but no batch query, as I know.
  2. http://hugenavigator.net/HuGENavigator/startPageMapper.do - can convert mutation names to RS# , but has not all data

thank you four your attention!

snp database mutation

Thank you! But now a second part is still actual, about ASL: IVS5+1G>A or AIRE: ISV8+5 G>T

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