Table 1.
Re-sequencing results
| SNP ID/bp positiona | SNP | Location | Exon variants |
|---|---|---|---|
| rs13197301 | A/G | 5′-UTR | |
| rs13197384 | C/A | 5′-UTR | |
| 135860511 | C/T | Exon 1 | |
| rs9402709 | G/T | Intron 3 | |
| rs2757651 | T/C | Intron 6 | |
| 135826225 | G/A | Intron 6 | |
| 135820659 | G/A | Intron 7 | |
| 135818827 | T/C | Intron 8 | |
| rs4896147 | G/A | Intron 8 | |
| 135818503 | T/G | Intron 9 | |
| rs11964449 | A/G | Intron 10 | |
| 135810083 | A/T | Intron 11 | |
| 135805628–5631 | TTTT/- | Intron 12 | |
| rs17053651 | G/A | Intron 12 | |
| rs2757645 | G/A | Intron 12 | |
| rs2614274 | T/C | Intron 13 | |
| 135801436 | A/C | Intron 13 | |
| rs737561 | C/T | Intron 14 | |
| rs2273761 | A/G | Exon 15 | D741D |
| 135792717 | G/A | Exon 17 | R830Wa |
| 135791578 | C/T | Exon 18 | R835R |
| rs13218824 | T/C | Intron 18 | |
| rs2757639 | A/G | Intron 19 | |
| 135774342 | T/C | Exon 20 | Y933Ca |
| 135774153/8-172 | indel | Intron 20 | |
| 135757701 | T/C | Exon 22 | S1005S |
| 135757506 | C/T | Intron 22 | |
| 135681408 | G/A | Exon 25 | S1123Fa |
| rs6914831 | C/T | Intron 25 | |
| 13568282 | G/T | Intron 25 | |
| rs4896141 | C/G | Intron 26 | |
| rs11970282 | T/C | Intron 27 | |
| rs9494209 | C/G | Exon 28 | |
| rs1052502 | C/T | Exon 28 | |
| 135648179–81 | -/CA | Exon 28 | |
| 135647428 | T/A | Exon 28 |
SNP identity and location within the AHI1 gene are listed. The SNP NCBI rs ID is shown in column 1. Where the SNP ID is not reported, position in base pair is listed. Base pair position is according to Ensembl database (http://www.ensembl.org). SNP ID is based on NCBI dbSNP Build 126 database (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=snp). The exon/intron of the AHI1 gene where the SNP is found is reported in column 3. Amino acid changes are indicated where applicable in column 4.
aNon-synonymous variants located in the WD40 or downstream of SH3-conserved domains. See Results section for exact locations in domains.