Table 2.
Genetic variants detected in NR1C3.
| SNP no. | Position in DNA( a) | Exon/ intron no. | Exon position | Intron/ exon | Base exchange | Position in RNA(b) | AA exchange(c) | SNP database |
|---|---|---|---|---|---|---|---|---|
| 1 | 12332979 | 1 | Intron | G>T | NA | Not found | ||
| 2 | 12333068 | 1 | Exon | insC | 68 | frame shift | Not found | |
| 3 | 12333070 | 1 | 5-prime | C>T | 70 | 5-prime | Not found | |
| 4 | 12333125 | 1 | 12333001–12333173 | Exon | C>G | 125 | 12 P [Pro]>A [Ala] | rs1801282 |
| 5 | 12333199 | 1 | Intron | T>G | NA | Not found | ||
| 6 | 12333213 | 1 | Intron | G>A | NA | Not found | ||
| 7 | 12361272 | 2 | 12361203–12361430 | Exon | C>T | 243 | 51 S [Ser]>F [Phe] | Not found |
| 8 | 12361422 | 2 | Exon | A>G | 393 | 101 E [Glu]>G [Gly] | Not found | |
| 9 | 12363017 | 3 | 12362821–12362990 | Intron | A>G | NA | Not found | |
| 10 | 12374014 | 4 | Intron | G>T | NA | Not found | ||
| 11 | 12374024 | 4 | Intron | A>T | NA | Not found | ||
| 12 | 12374091 | 4 | Intron | C>A | NA | rs4135333 | ||
| 13 | 12374110 | 4 | Intron | C>T | NA | Not found | ||
| 14 | 12374272 | 4 | 12374113–12374251 | Intron | A>T | NA | rs4135334 | |
| 15 | 12374352 | 4 | Intron | C>T | NA | Not found | ||
| 16 | 12387616 | 5 | 12387381–12387580 | Intron | G>A | NA | Not found | |
| 17 | 12398613 | 6 | 12398203–12398653 | Exon | C>T | 1321 | 410 S [Ser]>S [Ser] | Not found |
| 18 | 12415473 | 7 | Exon | G>A | 1438 | 449 L [Leu]>L [Leu] | Not found | |
| 19 | 12415557 | 7 | 12415397–12415855 | Exon | C>T | 1522 | 477 H [His]>H [His] | rs3856806 |
| 20 | 12415581 | 7 | Exon | G>A | 1546 | 485 K [Lys]>K [Lys] | Not found | |
| 21 | 12415647 | 7 | Exon | G>A | 1611 | 506 stop>stop | Not found | |
| 22 | 12415669 | 7 | 3′ end | C>T | 3′ end | Not found |
no.: number; AA: amino acid; (a)DNA reference sequence NT_02257.18; (b)RNA reference sequence NM_015869.4; (c)protein reference sequence P37231 (PPARG_HUMAN) SWISSPROT database.