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FIGURE 3–2. Chromosomes, genes, and genetic variation.

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FIGURE 3–2. Chromosomes, genes, and genetic variation.Panel A shows a representation of chromosome 6 (Chr6), which spans 170 megabases of DNA. Panel B shows a zoomed-in representation of the area highlighted in red in panel A. This region contains 31 genes within 2 megabases. Genes can be transcribed from both strands of the DNA. The arrows indicate the direction of transcription and translation of the respective genes. In the region shown, three copy number variants (CNVs) have been identified. All three span several genes. Panel C shows a zoomed-in representation of the gene for FK506 binding protein 5 (FKBP5) highlighted with a red frame in panel B. The gene spans 115 kilobases and is composed of 11 exons (translated into protein). The intervening introns are transcribed into RNA but are spliced out to form the mature mRNA that serves as the template for translation. The transcription start is at exon 1. In this gene, more than 60 SNPs have been genotyped within the HapMap Project. Their positions are indicated by the triangles. Panel D shows sequence examples for three common polymorphisms.Source. Representations from www.hapmap.org.

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