| 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 |
| CHAK00431 |
1 |
143 |
Not Confirmed |
Likely |
Medium |
Both |
Promoter |
N/A |
N/A |
N/A |
0 |
N/A |
N/A |
M61895 |
A |
0.75 |
G |
0.25 |
CATCTGTACAAGCTCTTATTGTATTGTAGCTAAAACCTGTCTTTTCTCTTTGACCTAAAT*ATGAAAGTCTTAAAATTTGTTTATTTATTTGATTAAACTCTGAAATAAAGATTATTGCAC |
| CHAK00432 |
1 |
209 |
Not Confirmed |
Likely |
Rare |
U.S. White |
Promoter |
N/A |
N/A |
N/A |
0 |
N/A |
N/A |
M61895 |
T |
0.95 |
G |
0.05 |
AGTCTTAAAATTTGTTTATTTATTTGATTAAACTCTGAAATAAAGATTATTGCACTAGTG*CCTTTGCCCAAAATCTTAGGATGCTGCCTTAAACATCATGGTAGAATAATGTAACTAGCT |
| CHAK00433 |
10 |
107 |
Confirmed |
Likely |
Low |
U.S. White |
Coding |
Leu |
Phe |
Nonsynonymous |
1 |
CTC |
TTC |
M61892 |
C |
0.9 |
T |
0.1 |
ATTCCCTTGGTAGCTGGACTTTCTGCTGCTGGACTCTCCCTCCTGACATTAGCACCATTT*TCCTCTGGCTTCGGAAATGCTTACGGAAAGGTGAGGAAGTTTATGAATGTACTTCAAAAA |
| CHAK00434 |
12 |
54 |
Confirmed |
Likely |
Low |
Both |
Coding |
Asp |
Asp |
Synonymous |
3 |
GAT |
GAC |
M61893 |
T |
0.95 |
C |
0.05 |
ACAGTGCTTTACCTAGTGTTCTCATGTATTCCACAGCAGCTGCCAAAGCCTTGAATCAGA*GGAAGCTACCAAAAGCCTTCTTACATCCTTTAAGTTCAAAAGAATCAGGTAAGACTTGTA |
| CHAK00435 |
13 |
967 |
Not Confirmed |
Likely |
Rare |
Both |
3' UTR |
N/A |
N/A |
N/A |
0 |
N/A |
N/A |
M61894 |
T |
0.95 |
C |
0.05 |
TTACTACAGTTGTTTTTTGAAAACATGGTAGAATTGGAGAGTAAAAACTGAATGGAAGGT*TGTATATTGTCAGATATTTTTTCAGAAATATGTGGTTTCCACGATGAAAAACTTCCATGA |
| CHAK00436 |
13 |
1004 |
Not Confirmed |
Likely |
Rare |
U.S. White |
3' UTR |
N/A |
N/A |
N/A |
0 |
N/A |
N/A |
M61894 |
T |
0.95 |
G |
0.05 |
AGAGTAAAAACTGAATGGAAGGTTTGTATATTGTCAGATATTTTTTCAGAAATATGTGGT*TCCACGATGAAAAACTTCCATGAGGCCAAACGTTTTGAACTAATAAAAGCATAAATGCAA |
| CHAK00437 |
13 |
1158 |
Not Confirmed |
Certain |
High |
Both |
3' UTR |
N/A |
N/A |
N/A |
0 |
N/A |
N/A |
M61894 |
G |
0.5 |
A |
0.5 |
TTGGAAAAGAATACAGAAAGATGGATGTGCTTTGCATTCCTACAAAGATGTTTGTCAGAT*TGATATGTAAACATAATTCTTGTATATTATGGAAGATTTTAAATTCACAATAGAAACTCA |
| CHAK00438 |
13 |
1549 |
Not Confirmed |
Certain |
High |
U.S. White |
3' UTR |
N/A |
N/A |
N/A |
0 |
N/A |
N/A |
M61894 |
G |
0.35 |
A |
0.65 |
TTAACTTAGCATGTGTTGAAAAAAAAAGTTTCAGAGAAGTTCTGGCTGAACACTGGCAAC*ACAAAGCCAACAGTCAAAACAGAGATGTGATAAGGATCAGAACAGCAGAGGTTCTTTTA |
| CHAK00439 |
2 |
382 |
Not Confirmed |
Likely |
Rare |
U.S. White |
Coding |
Cys |
Trp |
Nonsynonymous |
3 |
TGC |
TGG |
M61887 |
C |
0.95 |
G |
0.05 |
CTGCGTGGAGATCTACATCAAGAGAGAAAAAGATGTGGGCATGTGGAATGATGAGAGGTG*AGCAAGAAGAAGCTTGCCCTATGCTACACAGGTAGGGAGTTTGCGGCACGAGTGGGAGGT |
| CHAK00440 |
3 |
53 |
Confirmed |
Likely |
Rare |
Both |
Coding |
Ser |
Arg |
Nonsynonymous |
1 |
AGT |
CGT |
M61888 |
A |
0.95 |
C |
0.05 |
TAATAGTCCTCCTCATCATGCTTTGTATTTTCCGTAGCTGCCTGTACCAATACATCCTGC*GTGGCCACGGTGAATGTGTAGAGACCATCAATAATTACACTTGCAAGTGTGACCCTGGCT |
| CHAK00441 |
3 |
152 |
Not Confirmed |
Likely |
Rare |
Both |
Intron |
N/A |
N/A |
N/A |
0 |
N/A |
N/A |
M61888 |
T |
0.95 |
C |
0.05 |
ACTTGCAAGTGTGACCCTGGCTTCAGTGGACTCAAGTGTGAGCAAAGTAAGTCTGGTTCT*GCCTCTTTCTTCACTTGAGATGGTAGCACCATCTCACGTCCTAGCTGGCATTA |
| CHAK00442 |
5 |
55 |
Not Confirmed |
Likely |
Rare |
Both |
Coding |
Asn |
Asn |
Synonymous |
3 |
AAT |
AAC |
M61890 |
T |
0.95 |
C |
0.05 |
TCTGTAAAATTCATGGTGCTCTTTCAAATCCTCAGTGGTTGAGTGTGATGCTGTGACAAA*CCAGCCAATGGGTTCGTGGAATGTTTCCAAAACCCTGGAAGCTTCCCATGGAACACAACC |
| CHAK00443 |
5 |
197 |
Not Confirmed |
Likely |
Rare |
African |
Coding |
Glu |
Lys |
Nonsynonymous |
1 |
GAG |
AAG |
M61890 |
G |
0.95 |
A |
0.05 |
GGATTTGAACTAATGGGAGCCCAGAGCCTTCAGTGTACCTCATCTGGGAATTGGGACAAC*AGAAGCCAACGTGTAAAGGTAGAGTTGTTCCACATGGAGACTTACTGTGAACATTCTTTC |
| CHAK00444 |
7 |
199 |
Not Confirmed |
Likely |
Low |
African |
Coding |
Asn |
Asn |
Synonymous |
3 |
AAC |
AAT |
M61891 |
C |
0.95 |
T |
0.05 |
GGGTTTTGTGTTGAAGGGATCCAAAAGGCTCCAATGTGGCCCCACAGGGGAGTGGGACAA*GAGAAGCCCACATGTGAAGGTACAGTCTTTGTTTTTATTTTATTTTAAGATAAAAAGAAC |
| CHAK00445 |
7 |
200 |
Not Confirmed |
Likely |
Rare |
African |
Coding |
Glu |
Gln |
Nonsynonymous |
1 |
GAG |
CAG |
M61891 |
G |
0.95 |
C |
0.05 |
GGTTTTGTGTTGAAGGGATCCAAAAGGCTCCAATGTGGCCCCACAGGGGAGTGGGACAAC*AGAAGCCCACATGTGAAGGTACAGTCTTTGTTTTTATTTTATTTTAAGATAAAAAGAACT |
| CHAK00446 |
8 |
22 |
Not Confirmed |
Likely |
Low |
Both |
Intron |
N/A |
N/A |
N/A |
0 |
N/A |
N/A |
M61891 |
T |
0.95 |
C |
0.05 |
GGTTACCTTGGGAAACGTATTGCTGGAGATGCAAACAAACTTCTAAAGTGCTCTCTCGTG*GTTCCAGCTGTGAGATGCGATGCTGTCCACCAGCCCCCGAAGGGTTTGGTGAGGTGTGCT |
| CHAK00447 |
8 |
152 |
Not Confirmed |
Likely |
Rare |
Both |
Coding |
His |
Tyr |
Nonsynonymous |
1 |
CAT |
TAT |
M61891 |
C |
0.95 |
T |
0.05 |
ATTGGAGAATTCACCTACAAGTCCTCTTGTGCCTTCAGCTGTGAGGAGGGATTTGAATTA*ATGGATCAACTCAACTTGAGTGCACATCTCAGGGACAATGGACAGAAGAGGTTCCTTCCT |
| CHAK00952 |
N/A |
43 |
Hum Genet 1996 Jan;97(1):15-20 |
N/A |
N/A |
Literature Search |
Coding |
Ala |
Ala |
Synonymous |
3 |
GCT |
GCC |
N/A |
T |
N/A |
C |
N/A |
TTCGTCTCTTACTTCCTTAGCTCCCACTGAGTCCAACATTCCCTTGGTAGCTGGACTTTCTGC*GCTGGACTCTCCCTCCTGACATTAGCACCATTTCTCCTCTGGCTTCGGAAATGCTTACGGAAAGGT |
| CHAK00953 |
N/A |
45 |
Hum Genet 1996 Jan;97(1):15-20 |
N/A |
N/A |
Literature Search |
Coding |
Ser |
Ser |
Synonymous |
3 |
TCT |
TCC |
N/A |
T |
N/A |
C |
N/A |
CTTTACCTAGTGTTCTCATGTATTCCACAGCAGCTGCCAAAGCCTTGAATCAGATGGAAGCTACCAAAAGCCTTC*TACATCCTTTAAGTTCAAAAGAATCAGGTAAGACTTGTAAATCACAAATGGTTATGAGAGAGGTATCTTCTCTACAT |
| CHAK00954 |
N/A |
77 |
Hum Genet 1996 Jan;97(1):15-20 |
N/A |
N/A |
Literature Search |
Coding |
Leu |
Phe |
Nonsynonymous |
N/A |
N/A |
N/A |
N/A |
C |
N/A |
T |
N/A |
TCTTACTTCCTTAGCTCCCACTGAGTCCAACATTCCCTTGGTAGCTGGACTTTCTGC*GCTGGACTCTCCCTCCTGACATTAGCACCATTTCTCCTCTGGCTTCGGAAATGC |
| CHAK00955 |
N/A |
235/238 |
Hum Genet 1996 Jan;97(1):15-20 |
N/A |
N/A |
Literature Search |
Coding |
Thr |
Thr |
Synonymous |
3 |
ACA |
ACG |
N/A |
A |
N/A |
G |
N/A |
TGGATTGGAATCAGAAAAGTCAACAATGTGTGGGTCTGGGTAGGAACCCAGAAACCTCTGAC*GAAGAAGCCAAGAACTGGGCTCCAGGTGAACCCAACAATAGGCAAAAAGATGAGGAC |
| CHAK00956 |
N/A |
235/238 |
Hum Genet 1996 Jan;97(1):15-20 |
N/A |
N/A |
Literature Search |
Coding |
Glu |
Glu |
Synonymous |
3 |
GAA |
GAG |
N/A |
A |
N/A |
G |
N/A |
TGGATTGGAATCAGAAAAGTCAACAATGTGTGGGTCTGGGTAGGAACCCAGAAACCTCTGACAGA*GAAGCCAAGAACTGGGCTCCAGGTGAACCCAACAATAGGCAAAAAGATGAGGAC |