| 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 |
| CHAK00569 |
1 |
683 |
Confirmed |
Certain |
High |
African |
Promoter |
N/A |
N/A |
N/A |
0 |
N/A |
N/A |
X59286 |
A |
0.6 |
C |
0.4 |
ATAAAGGATCACGCGCCCCAGTCGACGCTGAGCTCCTCTGCTACTCAGAGTTGCAACCTC*GCCTCGCTATGGCTCCCAGCAGCCCCCGGCCCGCGCTGCCCGCACTCCTGGTCCTGCTCG |
| CHAK00570 |
2 |
115 |
Confirmed |
Certain |
High |
African |
Coding |
Lys |
Met |
Nonsynonymous |
2 |
AAG |
ATG |
X59287 |
A |
0.65 |
T |
0.35 |
TCATCCTGCCCCGGGGAGGCTCCGTGCTGGTGACATGCAGCACCTCCTGTGACCAGCCCA*GTTGTTGGGCATAGAGACCCCGTTGCCTAAAAAGGAGTTGCTCCTGCCTGGGAACAACCG |
| CHAK00571 |
3 |
151 |
Not Confirmed |
Likely |
Rare |
African |
Coding |
Lys |
Asn |
Nonsynonymous |
3 |
AAG |
AAC |
X59288 |
G |
0.95 |
C |
0.05 |
CCAGGTGGAGGGTGGGGCACCCCGGGCCAACCTCACCGTGGTGCTGCTCCGTGGGGAGAA*GAGCTGAAACGGGAGCCAGCTGTGGGGGAGCCCGCTGAGGTCACGACCACGGTGCTGGTG |
| CHAK00572 |
4 |
115 |
Not Confirmed |
Likely |
Medium |
African |
Coding |
Gly |
Gly |
Synonymous |
3 |
GGG |
GGT |
X59288 |
G |
0.85 |
T |
0.15 |
TGTCAGCCCCCGGGTCCTAGAGGTGGACACGCAGGGGACCGTGGTCTGTTCCCTGGACGG*CTGTTCCCAGTCTCGGAGGCCCAGGTCCACCTGGCACTGGGGGACCAGAGGTTGAACCCC |
| CHAK00573 |
4 |
238 |
Not Confirmed |
Likely |
Rare |
African |
Coding |
Asp |
Asp |
Synonymous |
3 |
GAC |
GAT |
X59288 |
C |
0.95 |
T |
0.05 |
AGTCACCTATGGCAACGACTCCTTCTCGGCCAAGGCCTCAGTCAGTGTGACCGCAGAGGA*GAGGGCACCCAGCGGCTGACGTGTGCAGTAATACTGGGGAACCAGAGCCAGGAGACACTG |
| CHAK00574 |
5 |
47 |
Not Confirmed |
Likely |
Rare |
African |
Coding |
Val |
Met |
Nonsynonymous |
1 |
GTG |
ATG |
X59288 |
G |
0.95 |
A |
0.05 |
GTGACCTGAACCCGGGGCGGGGCTCACTGTGTGCCTATTCCAGGCTTTCCGGCGCCCAAC*TGATTCTGACGAAGCCAGAGGTCTCAGAAGGGACCGAGGTGACAGTGAAGTGTGAGGCCC |
| CHAK00575 |
6 |
18 |
Not Confirmed |
Likely |
Low |
African |
Intron |
N/A |
N/A |
N/A |
0 |
N/A |
N/A |
X59288 |
G |
0.95 |
A |
0.05 |
TCCCATAAGGTCTTGCCTCCAAGTCCTGCCCCCACCCACCTCCATGTCATCTCATC*TGTTTTTCCAGATGGCCCCCGACTGGACGAGAGGGATTGTCCGGGAAACTGGACGTGGCC |
| CHAK00576 |
6 |
39 |
Not Confirmed |
Likely |
Rare |
African |
Coding |
Arg |
Gln |
Nonsynonymous |
2 |
CGA |
CAA |
X59288 |
G |
0.95 |
A |
0.05 |
TCCAAGTCCTGCCCCCACCCACCTCCATGTCATCTCATCGTGTTTTTCCAGATGGCCCCC*ACTGGACGAGAGGGATTGTCCGGGAAACTGGACGTGGCCAGAAAATTCCCAGCAGACTCC |
| CHAK00577 |
6 |
254 |
Confirmed |
Certain |
High |
Both |
Coding |
Glu |
Lys |
Nonsynonymous |
1 |
GAG |
AAG |
X59288 |
G |
0.3 |
A |
0.7 |
CGAGATCTTGAGGGCACCTACCTCTGTCGGGCCAGGAGCACTCAAGGGGAGGTCACCCGC*AGGTGACCGTGAATGTGCTCTGTGAGTGAGCCGGCGGGCAGAGCTGGGTGGGGGCAGGGG |
| CHAK00578 |
7 |
304 |
Not Confirmed |
Likely |
Rare |
U.S. White |
3' UTR |
N/A |
N/A |
N/A |
0 |
N/A |
N/A |
X59288 |
C |
0.95 |
T |
0.05 |
TGGTGGCAGTGGTGCCACACTGAACAGAGTGGAAGACATATGCCATGCAGCTACACCTAC*GGCCCTGGGACGCCGGAGGACAGGGCATTGTCCTCAGTCAGATACAACAGCATTTGGGGC |
| CHAK00579 |
7 |
869 |
Not Confirmed |
Likely |
Rare |
U.S. White |
3' UTR |
N/A |
N/A |
N/A |
0 |
N/A |
N/A |
X59288 |
A |
0.95 |
G |
0.05 |
GGTCACCAGGTACAGTTGTACAGGTTGTACACTGCAGGAGAGTGCCTGGCAAAAAGATCA*ATGGGGCTGGGACTTCTCATTGGCCAACCTGCCTTTCCCCAGAAGGAGTGATTTTTCTAT |
| CHAK00580 |
7 |
929 |
Not Confirmed |
Likely |
Rare |
African |
3' UTR |
N/A |
N/A |
N/A |
0 |
N/A |
N/A |
X59288 |
T |
0.95 |
C |
0.05 |
AATGGGGCTGGGACTTCTCATTGGCCAACCTGCCTTTCCCCAGAAGGAGTGATTTTTCTA*CGGCACAAAAGCACTATATGGACTGGTAATGGTTCACAGGTTCAGAGATTACCCAGTGAG |
| CHAK00977 |
N/A |
96 |
Hum Genet 1996 Jan;97(1):15-20 |
N/A |
N/A |
Literature Search |
Coding |
Thr |
Thr |
Synonymous |
3 |
ACC |
ACA |
N/A |
C |
N/A |
A |
N/A |
CTGCCAGCGACTCCCCCACAACTTGTCAGCCCCCGGGTCCTAGAGGTGGACACGCAGGGGAC*GTGGTCTGTTCCCTGGACGGGCTGTTCCCAGTCTCGGAGGCCCAGGTCCACCTG |
| CHAK00978 |
N/A |
117 |
Genomics 1994 Jun;21(3):473-7 |
N/A |
N/A |
Literature Search |
Coding |
Gly |
Arg |
Nonsynonymous |
1 |
GGG |
AGG |
N/A |
G |
N/A |
A |
N/A |
GTCAGCCCCCGGGTCCTAGAGGTGGACACGCAGGGGACCGTGGTCTGTTCCCTGGAC*GGCTGTTCCCAGTCTCGGAGGCCCAGGTCCACCTGGCACTGGGGGACCAGAGGTTGA |