Table 6 of Oshikawa, Mol Vis 2009; 15:482-494. Table 6 of Oshikawa, Mol Vis 2009; 15:482-494.
Table 6. Nucleotide sequence variations observed in the arylsulfatase I gene locus.
| Marker name |
SNP name |
Region |
Amplicon |
Position |
Alleles major/minor |
dbSNP ID |
Minor allele frequency (%) |
|---|---|---|---|---|---|---|---|
| SV01 | SNP01 | Exon 1 | A2 | −272 | C/T | rs968431 | 30.15 |
| SV02 | - | Intron | A2 | 503 | T/G | - | 0.74 |
| SV03 | SNP02 | Intron | A2, A3 | 1128 | A/T | rs10463232 | 2.21 |
| SV04 | - | Intron | A3 | 1283 | C/T | rs930209 | 0.00 |
| SV05 | - | Intron | A3 | 1314 | G/A | rs7445044 | 0.00 |
| SV06 | - | Intron | A3 | 1328 | G/T | - | 0.74 |
| SV07 | SNP03 | Intron | A3 | 1345 | C/T | rs930210 | 12.50 |
| SV08 | - | Intron | A3 | 1440 | G/A | rs11956540 | 0.00 |
| SV09 | - | Intron | A3 | 1678 | C/T | rs4286653 | 0.00 |
| SV10 | SNP04 | Intron | A3 | 1733 | T/C | - | 12.50 |
| SV11 | - | Intron | A3 | 1769 | G/A | rs11956439 | 0.00 |
| SV12 | SNP05 | Intron | A3 | 2293 | C/A | rs12522210 | 9.56 |
| SV13 | - | Intron | A3 | 2318 | A/- | rs34043807 | 0.00 |
| SV14 | SNP06 | Intron | A3 | 2674 | G/A | rs9324643 | 13.97 |
| SV15 | - | Intron | A3 | 2991–2995 | ACGAG/- | - | 0.74 |
| SV16 | - | Intron | A3 | 3534 | C/T | rs11744744 | 0.00 |
| SV17 | SNP07 | Intron | A3 | 3612 | C/T | rs6579786 | 9.56 |
| SV18 | SNP08 | Intron | A3 | 3641 | C/T | rs6579785 | 22.06 |
| SV19 | - | Exon 2 | A3 | 4005 | C/T (Gly185Gly) | - | 0.74 |
| SV20 | - | Exon 2 | A3, A4 | 4086 | C/T (Tyr212Tyr) | rs6579784 | 0.00 |
| SV21 | - | Exon 2 | A4 | 4225–4226 | -/C (frame shift) | rs34775469 | 0.00 |
| SV22 | SNP09 | Exon 2 | A4 | 4344 | T/C (Asn298Asn) | - | 8.09 |
| SV23 | - | Exon 2 | A4 | 5466–5467 | -/C | rs34570494 | 0.00 |
| SV24 | - | Exon 2 | A4 | 5640 | C/A | rs17111118 | 0.00 |
| SV25 | SNP10 | Exon 2 | A4 | 5644 | C/T | - | 11.76 |