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coga / coga-kb
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Chunk #2 — INTRODUCTION — SNP prioritization

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FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization.
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Recent studies show that SNPs may have functional effects on the following. protein structures, by changing single amino acids (5,6);transcriptional regulation, by affecting transcription factor binding sites in promoter or intronic enhancer regions (7,8); andalternative splicing regulation, by disrupting exonic splicing enhancers (9) or silencers.