Table 2.
Polymorphisms found in TGFBRII
| Location | Nucleotide | Amino acid change |
Number of JPS patients |
refSNP ID |
|---|---|---|---|---|
| Intron 3 | c.338+7 A>G | Intronic | 9/18 | rs1155705 |
| Intron 4 | c.530−4 T>A | Intronic | 7/18 | rs11466512 |
| Exon 4 | c.1242 C>T | p.N414N | 6/18 | rs2228048 |
| Intron 7 | c.1600−8 C>T | Intronic | 1/18 | rs11466530 |
Reference sequence: NM_001024847.
JPS, juvenile polyposis; TGFBRII, transforming growth factor receptor type II.