minus 930A>G |
rs9932581 |
Promoter |
Activation by C/EBP |
Moreno et al., 2003 |
minus 852G>C |
NA |
Promoter |
NA |
Doi et al., 2005; Moreno et al., 2007
|
minus 6751>A |
rs16966671 |
Promoter |
Activated by HIF-1-α |
Moreno et al., 2007 |
minus 536C>T |
rs13306296 |
Promoter |
NA |
Moreno et al., 2007 |
C.59-37A/G |
rs3794624 |
Intron 1 |
NA |
Rae et al., 2000; Patente et al., 2015
|
c.36A>G#
|
rs8053867 |
exon 1 |
p.Glu12Glu |
Bedard et al., 2009 |
C.179A/C |
NA |
exon 3 |
p.Lys60Thr |
Rae et al., 2000 |
c.214T>C* (or also called C242T) |
rs4673 |
exon 2 |
p.His72Tyr |
Dinauer et al., 1990; Bedard et al., 2009
|
c.288-138ins50 |
NA |
exon 5 |
NA |
El Kares et al., 2006 |
c.381T>C* |
rs17354689 |
exon 6 |
p.Arg127arg |
Bedard et al., 2009 |
c.403G>A |
NA |
exon 6 |
p.Glu135Lys |
Rae et al., 2000 |
c.480G>A#
|
NA |
exon 6 |
p.Pro160Pro |
De Boer et al., 1992; Rae et al., 2000: Bedard et al., 2009
|
c.512A>G#
|
ss107795100 |
exon 6 |
p.Glu171Gly |
Bedard et al., 2009; |
c.521T>C* (or also called C549T) |
rs1049254 |
exon 6 |
p.Ala174Val |
Dinauer et al., 2000; Bedard et al., 2009
|
c.579G>T#
|
ss107795101 |
exon 6 |
p.Glu193Asp |
Bedard et al., 2009 |
c612A>G* (+24 of 3′ UT region (or |
rs1049255 |
3′UTR |
NA |
De Boer et al., 1992; Bedard et al., 2009
|