Figure 1.

An annotated gene sequence containing SNPs. A portion of the sequence for gene F13B (on chromosome 1) is shown. Black areas represent exons, while introns are in gray. The nucleotide positions on the left are relative to the human genome assembly provided by Goldenpath. SNPs are indicated by bold, underlined nucleotides, and their dbSNP identifier appears to the right of the sequence. A pop-up window displays additional information about individual SNPs: in this example, SNP rs6003 is shown to be a validated, non-synonymous coding SNP.

Riva and Kohane BMC Bioinformatics 2004 5:33   doi:10.1186/1471-2105-5-33
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