| 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 |
| CHAK00015 |
13 |
138 |
Confirmed |
Likely |
High |
Both |
Coding |
Pro |
Pro |
Synonymous |
3 |
CCC |
CCT |
M73275, M26657 |
C |
0.7 |
T |
0.3 |
GTTGGGCTACTGCAGGACTTCCCAGCCTCCTCTTCCTGCTGCTCTGCTACGGGCACCCTCTGCTGGTCCC*AGCCAGGAGGCATCCCAACAGGTGACAGTCACCCATGGGACAAGCAGCCAGGCAACAACCAGCAGCCAGA |
| CHAK00016 |
13 |
151 |
Confirmed |
Likely |
Medium |
African |
Coding |
Ser |
Pro |
Nonsynonymous |
1 |
TCT |
CCT |
M73275, M26657 |
T |
0.75 |
C |
0.25 |
AGGACTTCCCAGCCTCCTCTTCCTGCTGCTCTGCTACGGGCACCCTCTGCTGGTCCCCAGCCAGGAGGCA*CCCAACAGGTGACAGTCACCCATGGGACAAGCAGCCAGGCAACAACCAGCAGCCAGACAACCACCCACCA |
| CHAK00017 |
13 |
202 |
Confirmed |
Certain |
Medium |
African |
Coding |
Ser |
Gly |
Nonsynonymous |
1 |
AGC |
GGC |
M73275, M26657 |
A |
0.75 |
G |
0.25 |
GGTCCCCAGCCAGGAGGCATCCCAACAGGTGACAGTCACCCATGGGACAAGCAGCCAGGCAACAACCAGC*GCCAGACAACCACCCACCAGGCGACGGCCCACCAGACATCAGCCCAGAGCCCAAACCTGGTGACTGATGA |
| CHAK00018 |
15 |
144 |
Confirmed |
Certain |
Medium |
U.S. White |
Coding |
Ala |
Ala |
Synonymous |
3 |
GCG |
GCA |
J04144 |
G |
0.8 |
A |
0.2 |
ATGTGAACCAGTTGCAGAACACCACTATCAAGCGGATCATAAAGAAGGTTCAGGACCTAGAACGGGCAGC*CTGCCTGCCCAGGAGCTGGAGGAGTACAACAAGATCCTGTTGGATATGGAAACCACCTACAGCGTGGC |
| CHAK00019 |
17 |
19 |
Confirmed |
Likely |
High |
Both |
Intron |
N/A |
N/A |
N/A |
0 |
N/A |
N/A |
J04144, A28005 |
C |
0.55 |
A |
0.45 |
CTCTGAGCTCCCCTTACAAGCAGAGGTGAGCTAAGGGCTGGAGCTCAAGCCATTCAA*CCCCTACCAGATCTGACGAATGTGATGGCCACATCCCGGAAATATGAAGACCTGTTATGGGCATGGGAGG |
| CHAK00020 |
17 |
52 |
Confirmed |
Certain |
High |
Both |
Coding |
Thr |
Thr |
Synonymous |
3 |
ACA |
ACG |
J04144, A28005 |
A |
0.5 |
G |
0.5 |
CAGAGGTGAGCTAAGGGCTGGAGCTCAAGCCATTCAACCCCCTACCAGATCTGACGAATGTGATGGCCAC*TCCCGGAAATATGAAGACCTGTTATGGGCATGGGAGGGCTGGCGAGACAAGGCGGGGAGAGCCATCCTCC |
| CHAK00021 |
18 |
130 |
Confirmed |
Likely |
Rare |
Both |
Coding |
Leu |
Leu |
Synonymous |
3 |
CTC |
CTG |
J04144, A28005 |
C |
0.95 |
G |
0.05 |
CTATGTACGAGACACCATCCCTGGAGCAAGACCTGGAGCGGCTCTTCCAGGAGCTGCAGCCACTCTACCT*AACCTGCATGCCTACGTGCGCCGGGCCCTGCACCGTCACTACGGGGCCCAGCACATCAACCTGGAGGGGC |
| CHAK00022 |
21 |
150 |
Confirmed |
Likely |
Rare |
African |
Coding |
Ile |
Thr |
Nonsynonymous |
2 |
ATT |
ACT |
J04144 |
T |
0.95 |
C |
0.05 |
TATTTCATGCAGTACAAAGACTTACCTGTGGCCTTGAGGGAGGGTGCCAACCCCGGCTTCCATGAGGCCA*TGGGGACGTGCTAGCCCTCTCAGTGTCTACGCCCAAGCACCTGCACAGTCTCAACCTGCTGAGCAGTGAG |
| CHAK00023 |
22 |
19 |
Confirmed |
Likely |
Rare |
U.S. White |
Coding |
Phe |
Val |
Nonsynonymous |
1 |
TTT |
GTT |
J04144 |
T |
0.95 |
G |
0.05 |
CTGCACAGTCTCAACCTGCTGAGCAGTGAGGGTGGCAGCGACGAGCATGACATCAAC*TTCTGATGAAGATGGCCCTTGACAAGATCGCCTTTATCCCCTTCAGCTACCTCGTCGATCAGTGGCGCTG |
| CHAK00024 |
24 |
16 |
Confirmed |
Likely |
High |
Both |
Coding |
Phe |
Phe |
Synonymous |
3 |
TTT |
TTC |
J04144 |
T |
0.45 |
C |
0.55 |
TGACCCAGGGGCCAAGTTCCACATTCCTTCTAGCGTGCCTTACATCAGGTACTT*GTCAGCTTCATCATCCAGTTCCAGTTCCACGAGGCACTGTGCCAGGCAGCTGGCCACACGGGCCCCCTGC |
| CHAK00025 |
24 |
118 |
Confirmed |
Likely |
Rare |
African |
Coding |
Ala |
Ala |
Synonymous |
3 |
GCC |
GCT |
J04144 |
C |
0.95 |
T |
0.05 |
AGGCACTGTGCCAGGCAGCTGGCCACACGGGCCCCCTGCACAAGTGTGACATCTACCAGTCCAAGGAGGC*GGGCAGCGCCTGGCGACCGCCATGAAGCTGGGCTTCAGTAGGCCGTGGCCGGAAGCC |
| CHAK00026 |
26 |
154 |
Confirmed |
Likely |
Rare |
African |
Coding |
Arg |
Gln |
Nonsynonymous |
2 |
CGG |
CAG |
J04144, X94360 |
G |
0.95 |
A |
0.05 |
CGCGTGGGCCAGTGGCTGCTGCTCTTCCTGGGCATCGCCCTGCTGGTAGCCACCCTGGGCCTCAGCCAGC*GCTCTTCAGCATCCGCCACCGCAGCCTCCACCGGCACTCCCACGGGCCCCAGTTCGGCTCCGAGGTGGAG |
| CHAK00027 |
26 |
174 |
Confirmed |
Certain |
Low |
African |
Coding |
Arg |
Ser |
Nonsynonymous |
1 |
CGC |
AGC |
J04144, X94360 |
C |
0.9 |
A |
0.1 |
GCTCTTCCTGGGCATCGCCCTGCTGGTAGCCACCCTGGGCCTCAGCCAGCGGCTCTTCAGCATCCGCCAC*GCAGCCTCCACCGGCACTCCCACGGGCCCCAGTTCGGCTCCGAGGTGGAGCTGAGACACTCCTGAGGTGA |
| CHAK00028 |
26 |
205 |
Confirmed |
Likely |
N/A |
U.S. White |
Coding |
Gln |
Pro |
Nonsynonymous |
2 |
CAG |
CCG |
J04144, X94360 |
A |
N/A |
C |
N/A |
ACCCTGGGCCTCAGCCAGCGGCTCTTCAGCATCCGCCACCGCAGCCTCCACCGGCACTCCCACGGGCCCC*GTTCGGCTCCGAGGTGGAGCTGAGACACTCCTGAGGTGACCCGGCTGGGTCGGCCCTGCCCAAGGGCCTC |
| CHAK00029 |
26 |
224 |
Confirmed |
Likely |
Low |
U.S. White |
Coding |
Glu |
Glu |
Synonymous |
3 |
GAG |
GAA |
J04144, X94360 |
G |
0.95 |
A |
0.05 |
GGCTCTTCAGCATCCGCCACCGCAGCCTCCACCGGCACTCCCACGGGCCCCAGTTCGGCTCCGAGGTGGA*CTGAGACACTCCTGAGGTGACCCGGCTGGGTCGGCCCTGCCCAAGGGCCTCCCACCAGAGACTGGGATGG |
| CHAK00910 |
Promoter |
-5491 |
AmJHumGenet 58:1268-1278,1996 |
N/A |
N/A |
Literature Search |
Promoter |
N/A |
N/A |
N/A |
0 |
N/A |
N/A |
N/A |
T |
N/A |
C |
N/A |
CAGAACATTTCACTACCCCTAAAAGAAACCCCATACCACAGATTCCGATGCCGCCGGGAGCCCTG*CATGCCATGTCACATATATTATAGTATATATATGCCCAGCCATGGTCAACCCACCGTGTTCTTTG |
| CHAK00911 |
Promoter |
-5466 |
AmJHumGenet 58:1268-1278,1996 |
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 |
ATACCACAGATTCCGATGCCGCCGGGAGCCCTGTCATGCCATGTCACATATATTATAGTATAT*TATGCCCAGCCATGGTCAACCCACCGTGTTCTTTGACATCACCATCAACAGCAAGCCCTTGGGCC |
| CHAK00912 |
Promoter |
-3892 |
AmJHumGenet 58:1268-1278,1996 |
N/A |
N/A |
Literature Search |
Promoter |
N/A |
N/A |
N/A |
0 |
N/A |
N/A |
N/A |
T |
N/A |
C |
N/A |
TCTTCAATTTCAGGCATCCATTGAGAGTCTTGGAATGTACCCACTGAGGATAAGGGGGGG*TGCTGTACATACTTTGCAAATATCTTCTCTCATCCCATGGGTTGTCTTTTCATTTTCTTTCTTT |
| CHAK00913 |
Promoter |
-240 |
AmJHumGenet 58:1268-1278,1996 |
N/A |
N/A |
Literature Search |
Promoter |
N/A |
N/A |
N/A |
0 |
N/A |
N/A |
N/A |
T |
N/A |
A |
N/A |
GCTGCGCGGCCGCACGGTGGGCAGGCTCGGGTGTTCCGGCAAACTGCCGGGTCCCCATCTTC*AAAGAGAGGAGGCCCTTTCTCCAGCTTCCTCTGCGGGAGCCCGACCCAGCCCCATCCCGCC |
| CHAK00914 |
Promoter |
-93 |
AmJHumGenet 58:1268-1278,1996 |
N/A |
N/A |
Literature Search |
Promoter |
N/A |
N/A |
N/A |
0 |
N/A |
N/A |
N/A |
T |
N/A |
C |
N/A |
CCGGCCCGCGCCCCTGCCCGGGGCGGGCCAGGAACCTCGGCCCGCGCCGCTGGGGACT*TGGAGCGGAGGAGGAAGCGCGGCGGGGCGGGGGCGGGGGTGTGTCGGGTTTTATAACC |
| CHAK00915 |
8 |
106 |
WIAF-1325 |
N/A |
N/A |
Literature Search |
Coding |
Pro |
Pro |
Synonymous |
3 |
CCC |
CCT |
J04144 |
C |
N/A |
T |
N/A |
GATCAAGCAGTGCACACGGGTCACGATGGACCAGCTCTCCACAGTGCACCATGAGATGGGCCATATACAGTACTACCTGCAGTACAAGGATCTGCC*GTCTCCCTGCGTCGGGGGGCCAACCCCGGCTTCCATGAGGCCATTGGGGACGTGCTGGCGCTCTCGGTCTCCACTCCTGAACATCTGCACAAAATCGGCCTGC |