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Figure 2 | BMC Medical Genetics

Figure 2

From: Hypervariable intronic region in NCX1 is enriched in short insertion-deletion polymorphisms and showed association with cardiovascular traits

Figure 2

The human Na(+)-Ca(2+) exchanger (NCX1) gene: (a) Genomic structure shown in arbitrary scale (adapted from [8]; (b) Hypervariable region within intron 2 (348 bp): identified human variants mapped on human-chimpanzee-macaque DNA sequence alignment. The human polymorphisms (C = >G SNP, 43 bp deletion, 10 bp deletion, 40 bp duplication, 14 bp indel and 5 bp deletion) are highlighted by arrows and in bold. Duplicons A and B of the 40 bp duplication are indicated in italics. Indel hotspot motifs GTAAG (reverse strand: CATTC; [36, 43] are underlined and enclosed in the brackets.

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BMC Medical Genetics

ISSN: 1471-2350

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