Nonsense, missense, and synonymous polymorphisms of the hAOX1 gene in the Italian population
The SNP data were deposited in the National Center for Biotechnology Information database under the accession numbers indicated in the last column.
| Exon | Nucleotide | Amino Acid | Allelic Frequency | Heterozygotes | Homozygotes | RefSNP(rs) |
|---|---|---|---|---|---|---|
| 5 | C/G | Y126stop | 0.026 | 8/153 | 0/153 | ss469333481 |
| 22 | C/T | R802C | 0.006 | 2/180 | 0/180 | rs41309768 |
| 25 | G/A | R921H | 0.003 | 1/180 | 0/180 | rs56199635 |
| 30 | A/G | N1135S | 0.029 | 1/154 | 4/154 | rs55754655 |
| 34 | C/T | S1271L | 0.039 | 14/178 | 0/178 | rs141786030 |
| 34 | A/G | H1297R | 0.053 | 7/178 | 6/178 | rs3731722 |
| 34 | C/T | L1268silent | 0.022 | 8/178 | 0/178 | ss469333482 |