


| SNP Number | Exon | Position In Exon | Confirmation | Call Quality | Heterozygosity Class | Sample Detected | Location In gene | Amino Acid 1 | Amino Acid 2 | Type of Amino Acid Change | Codon Position | Codon 1 | Codon 2 | GenBank Accession # | Allele 1 | Allele 1 Frequency | Allele 2 | Allele 2 Frequency | Flanking Sequence |
| CHAK00467 | 4 | 144 | Not Confirmed | Likely | Rare | U.S. White | Coding | Val | Ile | Nonsynonymous | 1 | GTC | ATC | J03071 | G | 0.95 | A | 0.05 | GTGCAGTTCCTCAGGAGTGTCTTCGCCAACAGCCTGGTGTACGGCGCCTCTGACAGCAAC*TCTATGACCTCCTAAAGGACCTAGAGGAAGGCATCCAAACGCTGATGGGGGTGAGGGTGG |
| CHAK00961 | Promoter | -75 | Hum Genet 1997 Aug;100(2):249-55 | N/A | N/A | Literature Search | Promoter | N/A | N/A | N/A | 0 | N/A | N/A | N/A | A | N/A | G | N/A | TCCATTAGCACAAGCCCGTCAGTGGCCCCATGCATAAATGT*CACAGAAACAGGTGGGGGCAACAGTGGGAGAGAAGGGGCCAGGGTATAAAAAGGGCCC |
| CHAK00962 | Promoter | (+)16/ (+)25 | Hum Genet 1997 Aug;100(2):249-55 | N/A | N/A | Literature Search | Promoter | N/A | N/A | N/A | 0 | N/A | N/A | N/A | A | N/A | G | N/A | AAAAAGGGCCCACAAGAGACCTGCTCTAGGTCCCAAGGCCC*ACTCCCCGAACCACTCAGGGTCCTGTGGACAGCTCACCTAGCTGCAAT |
| CHAK00963 | Promoter | (+)16/ (+)25 | Hum Genet 1997 Aug;100(2):249-55 | N/A | N/A | Literature Search | Promoter | N/A | N/A | N/A | 0 | N/A | N/A | N/A | A | N/A | C | N/A | AAAAAGGGCCCACAAGAGACCTGCTCTAGGTCCCAAGGCCCAACTCCCCGA*CCACTCAGGGTCCTGTGGACAGCTCACCTAGCTGCAAT |
Please e-mail any questions or suggestions to Michael A. Choma or Marc Halushka.