How To Annotate A Human Dna Position
If I know a human DNA position and its code, for example: an "A" located in chr1:207510596-207510597(forward srand), how do I map this location to biological annotation.
And I just want to know what kind of region does this position locate and its possible mutation type: Does it locate in intron, exon or non-coding region, and is it a missense, synonymous or slient mutation?
Is there such a batch mapping tool?
Thank you!
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Yuyin110 •
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Free Man
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Free Man
4 answers
You might try snpEff or Ensemble's Variant Effect Predictor
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Chris Miller
how about UCSC genome browser.
You can use UCSC find the annotion region, find the intron, exon or non-coding region, then confirm your location in which region.
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Do you want a web-based solution, or ready-made tool, or are you willing to do a little programming?
OK, I will develope such a program myself!