Position | SNP and Sequence Context | Location | Accession No. | Amino Acid Change |
---|---|---|---|---|
-1732 | GGACA[G>T]GACGT | Exon 1 | ||
72 | GAAGA[G>T]GGGCT | Exon 2 | E24D | |
11177 | TCCAA[C>A]TCTTC | Exon 3 | N61K | |
15019 | TAGAC[A>C]TTTGT | Exon 4 | T108T | |
15136 | TGTTC[C>T]GGACA | Exon 4 | rs1800822 | S147S |
15167a | CAAAA[G>A]AGTCC | Exon 4 | rs2266782 | E158K |
15437 | TTTAA[A>G]GGCAA | Exon 5 | K167K | |
18281a | TGTAC[G>A]TGAAG | Exon 6 | rs1736557 | V257M |
21375 | TTTAA[C>T]GATGA | Exon 7 | rs909530 | N285N |
21443a | CACAG[A>G]GACCT | Exon 7 | rs2266780 | E308G |
23613 | AAAAA[G>T]CGCAA | Exon 8 | K416N |
↵a Previously reported (Cashman et al., 1997, 2000; Treacy et al., 1998; Park et al., 1999; Dolphin et al., 2000).