Table 1. Locations, base changes, and allele frequencies of variable loci within the α2CAR gene.
Minor allele frequency
|
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---|---|---|---|---|---|---|
Region | Location code | Nucleotide | Alleles | Ca | AA | As |
Promoter | a | −2579 | T/C | 8.8 | 6.3 | 35.4 |
b | −2416 | C/G | 0 | 10.0 | 0 | |
c | −2357 | C/T | 0 | 10.0 | 0 | |
d | −2280 | G/T | 0 | 5.0 | 0 | |
e | −2069 | C/T | 7.5 | 2.5 | 35.4 | |
f | −2064 | C/T | 0 | 0 | 2.1 | |
g | −1926 | G/A | 1.3 | 1.3 | 2.1 | |
h | −1692 | T/G | 6.3 | 38.8 | 8.3 | |
i | −1513 | T/G | 2.5 | 0 | 0 | |
j | −1262 | C/A | 0 | 7.5 | 0 | |
k | −965 | G/C | 0 | 11.3 | 0 | |
l | −940 | G/A | 7.5 | 2.5 | 35.4 | |
m | −933 | C/A | 1.3 | 1.3 | 2.1 | |
5′ UTR | n | −696 | C/G | 11.3 | 0 | 0 |
o | −241 | C/G | 0 | 7.5 | 0 | |
p | −230 | T/C | 5.0 | 2.5 | 6.3 | |
Coding | q | +964 to +975 | Ins/Del | 6.3 | 42.5 | 12.5 |
3′ UTR | r | +1483 to +1503 | Ins/Del | 8.8 | 5.0 | 42.5 |
s | +1486 | T/C* | 34.2 | 71.1 | 30.4 | |
t | +1757 | G/C | 31.3 | 67.5 | 20.8 |
Ca, Caucasian; AA, African-American; As, Asian; Ins, insertion; Del, deletion.
SNP at s is located within the insertion sequence site r only, so in the deletion form of r, the s genotype is not applicable.