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|
|
|
GenBank Number/
position
|
Flanking sequence
|
Aminoacidic change/
Trivial name
|
Freq. rare allele/ popul.
|
Position in the gene
|
Found in haplotypes
|
Biological activity associated to the SNP
|
|
|
|
|
|
|
|
Alcohol dehydrogenase IB (class I), beta polypeptide previousely called ADH2; 4q21-q23
|
|
|
|
|
|
|
AP002027.1
/48114
|
tttcaggaatttgggtatgttaaattcatctagttacaatcttttctgaatctgaacagcttctctttattctgtagatggtggctgtaggaatctgtc(G/A)cacagatgaccacgtggttagtggcaacctggtgaccccccttcctgtgattttaggccatgaggcagccggcatcgtggagagtgttggagaaggggtg
|
R48H
MboII
|
0.01-0.06 Ca
|
Exon 3
|
ADH2*2
|
Higher Km and Vmax (but less important than ADH2*3)
|
AP002027.1
/37812
|
ttttcactaagacacctcagatgctccttggactctcacaacaagcatgtgggttgtctaaatgttaacacaatgtctcttctttcctattgcagtatc(C/T)gtaccgtcctgacgttttgaggcaatagagatgccttcccctgtagcagtcttcagcctcctctaccctacaagatctggagcaacagctaggaaatatc
|
R369C
|
0.30 AfAm
|
Exon 9
|
ADH2*3
|
Higher Km and Vm
|
Alcohol dehydrogenase 1C (class I), gamma polypeptide previousely called ADH3; 4q21-q23
|
|
|
|
|
|
|
AP002027.1
/69555
|
attttcttcttttcaagctttaagagtaaagaatctgtccccaaacttgtggctgactttatggctaagaagttttcactggatgcattaataacaaat(A/G)ttttaccttttgaaaaaataaatgaaggatttgacctgcttcgctctggaaagaggtagattttaagttgtttttttgttttgctttgtattctacagta
|
I349V
SspI
|
0.39 Ca
|
Exon 8
|
ADH3*2
|
Decreased Vmax
|
Aldehyde dehydrogenase2 mitochondrial (ALDH2); 12q24.2
|
|
|
|
|
|
|
NT_009770.3
/2689346
|
gccccatccatgtcacctcgttcatctccttcacctccgaaatgatctcgcttttgggtttacggccggtctcttcacctggagcatcagccggg(A/G)aggtcagggtcgccctggctcgggcctgttcacattggggtcaaaggcacacattgggggctcaaccaaggcgagctgcgttcgcggggccgggtctttccgcacaggcggagggcgg
|
355G>A
| -
Af
0.138 As
0.805 Ca
0.653 Mix
|
5’ flanking sequence
|
|
n/a
|
AF073512.1
/338
|
gcttggtggctcacgcctgcaatcccagcactttgggtggccaaagcaggagggttgcttgagttcaggagtttgagaccagcctgagcaacatagcaagaccccatctctacaaaaaattaaaaatcagc(T/C)gggtggcatgcacctgtagtcccaactacttgggaggttaaggcaggaggatcacttgagcccaggagtttgaggctgcagtgagctgtgatcacaccactgcactcc
|
348T>C
MspI
|
0.225 Af
0.182 As
0.182 Ca
0.138 Mix
|
Intron 6
|
|
n/a
|
AF073512.1
/473
|
acttgagcccaggagtttgaggctgcagtgagctgtgatcacaccactgcactccagcctgggtgccagagagagactcgg(T/C)ctcaaaaaacaaacaaaaacccactgttgttctaagtgaatgctgtcaggggaggggcaaagacacagggaaccccagcgaacagactccttctccgtcccatttagaattcccatgtagtgcccca
|
483T> C
HaeIII
|
0.225 Af
0.182 As
0.182 Ca
0.138 Mix
|
Intron 6
|
|
n/a
|
NT_009770.3
/2714936
|
cctgtctttctgtccccacagattggccgcgtaatccaggttgctgctgggagcagcaacctcaagagagtgaccttggagctgggggggaagagccccaacatcatcatgtcagatgccgatagtgagtttccagctggagaaggcctggccttgaaggtagccctggccacct(G/C)tgttgtggctccagccgatcctgtcgcccccccagtgcccaatggcgttggttgctgtccctcgggcctcaggataagacgccagcgcagggcctgcatggcctggccttggcctgtccccagcc
|
52G>C
|
0 Af
0.20 As
0 Ca
0 Mix
|
Intron 8
|
|
n/a
|
NT_009770.3
/2714953
|
tcaagagagtgaccttggagctgggggggaagagccccaacatcatcatgtcagatgccgatagtgagtttccagctggagaaggcctggccttgaaggtagccctggccacctgtgttgtggctccagcc(G/A)atcctgtcgcccccccagtgcccaatggcgttggttgctgtccctcgggcctcaggataagacgccagcgcagggcctgcatggcctggccttggcctgtccccagcctctccctggctgctctctgcatcatcaggctaggccacgcccctgctatctgactcatc
|
69G>A
|
0.235 Af
0.182 As
0.182 Ca
0.138 Mix
|
Intron 8
|
|
n/a
|
NT_009770.3
/2726683
|
ctgggagtgtaacccataacccccaagagtgatttctgcaatctcgtttcaaattacagggtcaactgctatgatgtgtttggagcccagtcaccctttggtggctacaagatgtcggggagtggccgggagttgggcgagtacgggctgcaggcatacact(G/A)aagtgaaaactgtgagtgtgggacctgctgggggctcagggcctgttggggcttgagggtctgctggtggctcggagcctgctgggggattggggtctgttgggggctcggggcctgccagaggttcaggacctgccg
|
E487K
|
0 Af
0.20 As
0 Ca
0 Mix
|
Exon 12
|
ALDH2*2
|
Lower Km
|
Apurinic Apyrimidinic endonuclease (APEX/APE1); 14q12
|
|
|
|
|
|
|
M92444.1
/1210
|
ttactcattttatagagccagaggccaagaagagtaagacggccgcaaagaaaaatgacaaagaggcagcaggagagggcccagccctgtatgaggaccccccagatca(G/C)aaaacctcacccagtggcaaacctgccacactcaagatctgctcttggaatgtggatgggcttcgagcctggattaagaagaaaggattagatgtgagtg
|
Q51H
|
0.03 Mix
|
Exon 3
|
|
n/a
|
M92444.1
/1247
|
ggccgcaaagaaaaatgacaaagaggcagcaggagagggcccagccctgtatgaggaccccccagatcagaaaacctcacccagtggcaaacctgccacactcaag(A/G)tctgctcttggaatgtggatgggcttcgagcctggattaagaagaaaggattagatgtgagtggaatttgagggaaagagacattttttagtattgaatggtc
|
I64V
|
0.01 Mix
|
Exon 3
|
|
n/a
|
M92444.1
/2197
|
aactcttcaaaaccaattgctaattctctatctctgccccacctcttgattgctttcccttttcttatagttttttatgctaattctgtttcatttctataggcga(T/G)gaggagcatgatcaggaaggccgggtgattgtggctgaatttgactcgtttgtgctggtaacagcatatgtacctaatgcaggccgaggtctggtacgactgg
|
D148E
|
0.39 Mix
|
Exon 5
|
|
n/a
|
M92444.1
/2474
|
gctgtgtggagacctcaatgtggcacatgaagaaattgaccttcgcaaccccaaggggaacaaaaagaatgctggcttcacgccacaagagcgccaaggcttc(G/A)gggaattactgcaggctgtgccactggctgacagctttaggcacctctaccccaacacaccctatgcctacaccttttggacttatatgatgaatgctcgatccaa
|
G241R
|
0.01 Mix
|
Exon 5
|
|
n/a
|
Catechol-O-methyltransferase (COMT); 22q11.21-q11.23
|
|
|
|
|
|
|
Z26491.1
/1947
|
gcgcatggcccgcctgctgtcaccaggggcgaggctcatcaccatcgagatcaaccccgactgtgccgccatcacccagcggatggtggatttcgctggc(G/A)tgaaggacaaggtgtgcatgcctgacccgttgtcagacctggaaaaagggccggctgtgggcagggcgggcatgcgcac
|
V158M
472G>A
|
0.49 Ca
0.18-0.29 As
0.16-0.32 Af
|
Exon 3
|
|
Decreased methylation activity (less stable)
|
Z26491.1
/1883
|
gattcaggagcaccagccctccgtgctgctggagctgggggcctactgtggctactcagctgtgcgcatggcccgcctgctgtcaccaggggcgaggct(C/G)atcaccatcgagatcaaccccgactgtgccgccatcacccagcggatggtggatttcgctggcGtgaaggacaaggtgtgcatgcctgacccgttgtcag
|
186C>G
L136L
|
0.325 Mix
|
Exon 3
|
|
n/a
|
Z26491.1
/1554
|
aacgagttcatcctgcagcccatccacaacctgctcatgggtgacaccaaggagcagcgcatcctgaaccacgtgctgcagcatgcggagcccgggaac(G/T)cacagagcgtgctggaggccattgacacctactgcgagcagaaggagtgggccatgaacgtgggcgacaagaaaggttggggttccgggccagcaggtgc
|
A72S
|
0 Mix
|
Exon 2
|
|
n/a
|
Z26491.1
/1526
|
ggggctggggcctgtgccttatcggctggaacgagttcatcctgcagcccatccacaacctgctcatgggtgacaccaaggagcagcgcatcctgaacca(C/T)gtgctgcagcatgcggagcccgggaacGcacagagcgtgctggaggccattgacacctactgcgagcagaaggagtgggccatgaacgtgggcgacaag
|
H62H
|
0.325 Mix
|
Exon 2
|
|
n/a
|
Z26491.1
/1441
|
atgccggaggccccgcctctgctgttggcagctgtgttgctgggcctggtgctgctggtggtgctgctgctgcttctgaggcactggggctggggcctgt(C/G)ccttatcggctggaacgagttcatcctgcagcccatccacaacctgctcatgggtgacaccaaggagcagcgcatcctgaaccacgtgctgcagcatgc
|
S34C
|
0.325 Mix
|
Exon 1
|
|
n/a
|
Z26491.1
/1243
|
acccgagggcaccagagggcacgagaaggctggctccctggcgctgacacgtcaggcaactgaggcacaaggctggcatttctgaaccttgcccctctgc(G/A)aacacaagggggcgatggtggcactccaagcaaaggggcgtgtgggtgctgcaggaggagcacagagcactggcgcccctcccctcccgccctgcagat
|
n/a
|
0.325 Mix
|
Intron 1
|
|
n/a
|
Cyclin-dependent kinase inhibitor 1A (p21, Cip1) (CDKN1A); 6p21.2
|
|
|
|
|
|
|
Z85996.1
/10250
|
cagggaagggtgtcctggccccccactgtcttcctcagttgggcagctccgccgcgtcctcttcttcttggcctggctgacttctgctgtctctcctcag(A/G)tttctaccactccaaacgccggctgatcttctccaagaggaagccctaatccgcccacaggaagcctgcagtcctggaagcgcgagggcctcaaaggccc
|
D149G
|
0.07 Ind
|
Exon 2
|
|
Altered activity & AA change is in PCNA bindig motif
|
Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A); 9p21
|
|
|
|
|
|
AC000048.4
/24831
|
tttctgtgctggaaaatgaatgctctgagctttggaagctctcagggtacaaattctcagatcatcagtcctcacctgagggaccttccg(C/T)ggcatctatgcgggcatggttactgcctctggtgccccccgcagccgcgcgcaggtaccgtgcgacatcgcgatggcccagctcctcagccaggtccacgggcagacggccccaggcat
|
A148T
|
0.05 Mix
|
Exon 2
|
|
n/a
|
Cytochrome P450, subfamily I, polypeptide 1 (CYP1A1); 15q22-q24
|
|
|
|
|
|
|
AF253322.1
/4494
|
ttaagcagtctgtttgagggacaagactctattttttgagacagggtccccaggtcatccaggctggagtgcactggtaccattttgtttcactgtaacctccacctcc(T/C)gggctcacacgattctcccacctcagcctctgagtagttggggccgcaggcacacgccaccacagcttttttttttttttttttttttttttgtagagatggggtttcaccat
|
3801T>C
m1
MspI
|
0.0773 Ca
0.37 As
0.24 Af
|
3’UTR
|
CYP1A1*2A
|
Higher inducibility
|
AF253322.1
/5088
|
gtgagggtgctgactggcttcagcaagttagaactagccaaaccaggaccctgtccaatctttgacaattgggagctgccaagagtgaagggaagagacagcccaggatactggcacagaggtagtctcactgcttgaactaggctgagcaatctgaccctatgggtctaggacacagttcctgggaacatcacattcctctgcccttcctgcaggcaggaacaaacagggctgccttc(T/C)ggccttgtaagacccttattgctgtcctggaggggctggggacttgtgtctgcggggatcagagcgcacagggagtgcacatatccaggcaccaggactagggctggagtgagggggggg
|
3205T>C
m3
|
0 Ca
0 As
0.10 Af
|
3’UTR
|
CYP1A1*3
|
Decreased efficiency to testosterone hydroxylation
|
X04300.1
/6570
|
cctgaacggtttctcacccctgatggtgctatcgacaaggtgttaagtgagaaggtgattatctttggcatgggcaagcggaagtgtatcggtgagacc(A/G)ttgcccgctgggaggtctttctcttcctggctatcctgctgcaacgggtggaattcagcgtgccactgggcgtgaaggtggacatgacccccatctatgggctaaccatgaagcatgcctgctgtgagca
|
I462V
m2
A2454G
BsaI
|
0.0267 Ca
0.22 As
0.03 Af
|
Exon 7
|
CYP1A1*2C
|
Normal activity
|
X04300.1
/6568
|
cctgaacggtttctcacccctgatggtgctatcgacaaggtgttaagtgagaaggtgattatctttggcatgggcaagcggaagtgtatcggtgaga(C/A)cattgcccgctgggaggtctttctcttcctggctatcctgctgcaacgggtggaattcagcgtgccactgggcgtgaaggtggacatgacccccatctatgggctaaccatgaagcatgcctgctgtgagca
|
3801T>C
T461D
MspI
m4
|
0.0295 Ca
|
Exon 7
|
CYP1A1*2A
|
Normal activity
|
X04300.1
/1213
|
aacctcagctagtcgcccgggctctgggggacaggtccagccccgcggcgcctctggccttccggccccgtgacctcagggctggggtcgcagcgcttctcacgcgagccgggactcagtaaccccgggaag(G/A)aggtcaccacggggcagccccgcccccgcctgccgagtcctggtaggctgtagcgctggggaggcatctgcacgcccagcgttccagtgggtgcaaaaatgacgaag
|
-3229G>A
|
0.05 Ca
|
5’ flanking region, it falls into the US3
sequence
|
CYP1A1*1C
|
Normal activity
|
X04300.1
/1223
|
aacctcagctagtcgcccgggctctgggggacaggtccagccccgcggcgcctctggccttccggccccgtgacctcagggctggggtcgcagcgcttctcacgcgagccgggactcagtaaccccgggaaggaggtcacca(C/T)ggggcagccccgcccccgcctgccgagtcctggtaggctgtagcgctggggaggcatctgcacgcccagcgttccagtgggtgcaaaaatgacgaagaggagtccccgcgccccaggatggagcttc
|
-3219C>T
|
0.07 Ca
|
5’ flanking region, it falls into the US3
sequence
|
CYP1A1*1B
|
Normal activity
|
X04300.1
/5506
|
Gaacaaatgtgctaggaatagtgaaggaccagacctggatggagaggtagctctgggtttgagatcttgctcacctgtggactttccctacctaagggccacatc(C/T)gggacatcacagacagcctgattgagcactgtcaggagaagcagctggatgagaacgccaatgtccagctgtcagatgagaagatcattaacatcgtcttggacctctttggagctggtatggttaccccattg
|
R279W
|
0.00625 Ca
0 Af
|
Exon 3
|
n/a
|
Normal activity
|
X04300.1
/5751
|
tgtccttcctgtgctcaagtgccctgacctgctgctgcctgcctaacttcttctgttctaccctgtccagggtttgacacagtcacaactgctatctcctggagcctcat(G/T)tatttggtgatgaaccccagggtacagagaaagatccaagaggagctaggtaggtagtggctcccttcaaaggggtcagtgccaggggtctggccaggtctaggcagcccctgcatccatcttgtccct
|
M331I
|
0.008 Ca
|
Exon 4
|
CYP1A1.*6
|
n/a
|
X04300.1
/6576
|
gtctccctctggttacaggaagctatgggtcaacccatctgagttcctacctgaacggtttctcacccctgatggtgctatcgacaaggtgttaagtgagaaggtgattatctttggcatgggcaagcggaagtgtatcggtgagaccattgcc(C/A)gctgggaggtctttctcttcctggctatcctgctgcaacgggtggaattcagcgtgccactgggcgtgaaggtggacatgacccccatctatgggctaaccatgaagcatgcctgctgtgagcacttccaaatgcagctgcgct
|
R464S
|
0.016 Ca
|
Exon 7
|
CYP1A1.*7
|
n/a
|
Cytochrome P450, subfamily I, polypeptide 2 (CYP1A2); 15q22-qter
|
|
|
|
|
|
|
AF253322.1
/31079
|
tatacatgacatatgcacttttccatttatttatttatttttgagacagaatcttgctctgtcacccaggctggagtgcagtggtgcgatcttggctcaccgcaacctccgcctctc(G/A)gattcaagcaattgtcatgccccagcttcccgagtagctggaattacaggtgtgcaccatcacgcccagctaatttttttttgtatttttagtagagatgaggtttcactatgttggcca
|
-3858G>A
|
0.21 As
<0.21 Ca
|
Promoter
|
CYP1A2*1C
|
Decreased activity and inducibility
|
AF253322.1
/32475
|
gtttaaaaataaaaaaattagccaggcatggtgcacacacctgtgattgtggtcccagctactcaggaggctgaggcaagaggattgtttgagctcaggaggtcgaggctgcagtgagccatgattgtggcaca(DelT)gaaccccaacctgggtgacagagcaagactctgtatctaaaaaaaaaaaaaaaagatagcaaacttccttttcacatccaatttaaggcttgtcctcctcctcctcttagatctgactgagatctgggtccatattaaagactcctttagtacaacaaacaccat
|
-2464(Tdel)
|
0.415 As
< 0.415 Ca
|
Promoter
|
CYP1A2*1D
|
n/a
|
