Question: (Closed) Convertion Of Mutation Names And Amino Acid Changes To Rs
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gravatar for Vova Naumov
7.5 years ago by
Vova Naumov220
Russia, Moscow
Vova Naumov220 wrote:

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!

database mutation snp • 5.8k views
ADD COMMENTlink written 7.5 years ago by Vova Naumov220

dup of

Amino Acid Variant Call to DNA SNP Call

ADD REPLYlink written 7.5 years ago by Pierre Lindenbaum127k

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

ADD REPLYlink written 7.5 years ago by Vova Naumov220
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