Figure 4

Information for the sequence variants of the gene. The link "See Variants", displays a page comprising two pieces of information on the browser: dbSNP-related information for the gene and literature-related information. The first includes the sequence variants described for the gene. The sequence variants are classified according to their mapping to the gene sequence in coding or non-coding regions of the gene. The table includes the following information for each dbSNP entry: the unique identifier from dbSNP (rs number), its validation status and allele frequency, the type of variant (e.g. "single base" for a SNP or "dips" for an insertion/deletion polymorphism), the position of the variant relative to the gene sequence, the alleles, and specifies the mapping or location of the variant (in coding sequences: synonymous or non-synonymous variants; in non-coding sequences: located in introns, splice-sites, untranslated regions, etc.). In addition, the identifiers of the mRNA and protein sequences are provided in the case of SNPs that map to coding sequences. In the case of variations located in coding regions, the position and amino acidic residues of the variation in the protein sequence are shown. The data are provided with hyperlinks to the corresponding data sources (dbSNP and NCBI Gene). The last column of the table indicates if any reference was found for each dbSNP entry, and provides a link to another page where this information is detailed (see Figure 5).