Table 7.
IPO13 polymorphisms identified through SNP discovery effort
| SNP | Alleles | MAF | rs number | Chr 1 position (in bp from pter) | Conserved base* |
| -1022 C>G | C/G | 0.043 | - | 44184837 | No |
| Asp415Asp | C/T | 0.043 | rs17402858 | 44195209 | Yes |
| IVS11-13 C>T | C/T | 0.050 | - | 44196992 | No |
| IVS14+14 A>G | A/G | 0.043 | rs2906596 | 44199535 | No |
| IVS17+46 G>C | G/C | 0.174 | rs4660759 | 44205087 | No |
| Asp891Ser | G/T | 0.022 | - | 44205631 | Yes |
| g.20431 A>G | A/G | 0.022 | - | 44206290 | Yes |
| g.21341 A>G | A/G | 0.087 | rs2486007 | 44207200 | No |
The nomenclature for discovered variation provided here follows that recommended by den Dunnen and Antonarakis[29]. Asp = Aspartic Acid; Ser = Serine; IVS denotes intervening sequence (i.e. intronic) SNP. MAF = minor allele frequency.
* Conservation based on 8-species sequence alignment as derived using Phylo-HMMs[30].