Genename Variants
GLB1L2(NM_138342,galactosidase, beta 1-like 2,636aa) g.11:134214302T>A,c.306T>A,p.H102Q
GLB1L2(NM_138342,galactosidase, beta 1-like 2,636aa) g.11:134201992A>G,c.37A>G,p.T13A
GLA(NM_000169,galactosidase, alpha,429aa) g.X:100658972C>G,c.196G>C,p.E66Q
GLA(NM_000169,galactosidase, alpha,429aa) g.X:100653420C>A,c.937G>T,p.D313Y
GLA(NM_000169,galactosidase, alpha,429aa) g.X:100653411C>T,c.946G>A,p.V316I
GKN2(NM_182536,gastrokine 2,184aa) g.2:69177311T>C,c.151A>G,p.I51V
GKN2(NM_182536,gastrokine 2,184aa) g.2:69177269C>A,c.193G>T,p.D65Y
GKN2(NM_182536,gastrokine 2,184aa) g.2:69173570C>T,c.338G>A,p.S113N
GKN2(NM_182536,gastrokine 2,184aa) g.2:69173520C>T,c.388G>A,p.V130M
GKN1(NM_019617,gastrokine 1,199aa) g.2:69207114G>A,c.427G>A,p.D143N
GKN1(NM_019617,gastrokine 1,199aa) g.2:69206066G>A,c.310G>A,p.V104I
GKN1(NM_019617,gastrokine 1,199aa) g.2:69201799G>A,c.32G>A,p.R11H
GKAP1(NM_025211,G kinase anchoring protein 1,366aa) g.9:86383740T>C,c.731A>G,p.H244R
GK5(NM_001039547,glycerol kinase 5 (putative),529aa) g.3:141901801T>C,c.907A>G,p.I303V
GK5(NM_001039547,glycerol kinase 5 (putative),529aa) g.3:141900366C>T,c.985G>A,p.V329I
GK2(NM_033214,glycerol kinase 2,553aa) g.4:80328891C>T,c.464G>A,p.R155H
GK2(NM_033214,glycerol kinase 2,553aa) g.4:80328875A>T,c.480T>A,p.N160K
GK2(NM_033214,glycerol kinase 2,553aa) g.4:80328865C>G,c.490G>C,p.V164L
GK2(NM_033214,glycerol kinase 2,553aa) g.4:80328366C>T,c.989G>A,p.R330H
GK2(NM_033214,glycerol kinase 2,553aa) g.4:80328141C>T,c.1214G>A,p.R405Q
GK2(NM_033214,glycerol kinase 2,553aa) g.4:80327964C>T,c.1391G>A,p.G464E
GK2(NM_033214,glycerol kinase 2,553aa) g.4:80327886T>C,c.1469A>G,p.Q490R
GK2(NM_033214,glycerol kinase 2,553aa) g.4:80327695A>G,c.1660T>C,p.X554Q
GJD4(NM_153368,gap junction protein, delta 4, 40.1kDa,370aa) g.10:35897539G>C,c.1098G>C,p.K366N
GJD4(NM_153368,gap junction protein, delta 4, 40.1kDa,370aa) g.10:35897387C>T,c.946C>T,p.R316X
GJD4(NM_153368,gap junction protein, delta 4, 40.1kDa,370aa) g.10:35897304C>T,c.863C>T,p.T288M
GJD4(NM_153368,gap junction protein, delta 4, 40.1kDa,370aa) g.10:35897205G>A,c.764G>A,p.G255D
GJD4(NM_153368,gap junction protein, delta 4, 40.1kDa,370aa) g.10:35897126G>A,c.685G>A,p.G229R
This is an excerpt of data-sheet including the published polymorphism sites observed in our studies. For the complete variant lists and potential collaboration, please contact huh@cougarlab.org