Table 2.
Information of 7 SNPs in NKX2-5
| Chromosome position | mRNA position | dbSNP rs# cluster ID | Function | dbSNP allele | Protein residue | Amino acid position | Region |
|---|---|---|---|---|---|---|---|
| 172662040 | 276 | rs17052019 | Missense/contig reference | C/A | Ala[A]/Asp[D] | 16 | Exon1 |
| 172662024 | 292 | rs2277923 | Synonymous/contig reference | G/A | Glu[E]/Glu[E] | 21 | Exon1 |
| 172660011 | 765 | rs3729938 | Missense/contig reference | G/C | Cys[C]/Ser[S] | 179 | Exon2 |
| 172659941 | 835 | rs3729753 | Synonymous/contig reference | C/G | Leu[L]/Leu[L] | 202 | Exon2 |
| 172659915 | 861 | rs3729754 | Missense/contig reference | T/C | Leu[L]/Pro[P] | 211 | Exon2 |
| 172659511 | 1265 | rs703752 | 3’UTR | A/G | 3’UTR | ||
| 172659237 | 1539 | rs11552707 | 3’UTR | G/T | 3’UTR |