Article
ssSNPTarget: genome-wide splice-site Single Nucleotide Polymorphism database.
Human mutation - 1 Dec 2009
Yang Jin Ok, Kim Woo-Yeon, Bhak Jong
Abstract excerpt
Deep sequencing has shown that over 90% of human genes undergo alternative splicing. The splicing process requires exon-intron boundary recognition. SNPs located in the boundaries (splice sites) influence exon configuration. Also, splice site SNPs (ssSNPs) alter translation efficiency of the mRNA and lead to important changes in disease susceptibility. We developed the ssSNPTarget database to provide ssSNPs on...
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