Genename Variants
CD44(NM_000610,CD44 molecule (Indian blood group),742aa) g.11:35227745A>G,c.1369A>G,p.I457V
CD44(NM_000610,CD44 molecule (Indian blood group),742aa) g.11:35226155A>G,c.1250A>G,p.K417R
CD44(NM_000610,CD44 molecule (Indian blood group),742aa) g.11:35226143G>A,c.1238G>A,p.R413H
CD44(NM_000610,CD44 molecule (Indian blood group),742aa) g.11:35226083C>T,c.1178C>T,p.T393M
CD44(NM_000610,CD44 molecule (Indian blood group),742aa) g.11:35223303G>A,c.1122G>A,p.E374E
CD44(NM_000610,CD44 molecule (Indian blood group),742aa) g.11:35223274C>T,c.1093C>T,p.P365S
CD44(NM_000610,CD44 molecule (Indian blood group),742aa) g.11:35211477G>A,c.532G>A,p.V178M
CD44(NM_000610,CD44 molecule (Indian blood group),742aa) g.11:35198191G>C,c.137G>C,p.R46P
CD40(NM_001250,CD40 molecule, TNF receptor superfamily member 5,277aa) g.20:44757654G>A,c.809G>A,p.R270H
CD40(NM_001250,CD40 molecule, TNF receptor superfamily member 5,277aa) g.20:44757524C>G,c.679C>G,p.P227A
CD40(NM_001250,CD40 molecule, TNF receptor superfamily member 5,277aa) g.20:44756839A>G,c.622A>G,p.I208V
CD40(NM_001250,CD40 molecule, TNF receptor superfamily member 5,277aa) g.20:44751363C>T,c.371C>T,p.S124L
CD40LG(NM_000074,CD40 ligand,261aa) g.X:135741443G>A,c.655G>A,p.G219R
CD40LG(NM_000074,CD40 ligand,261aa) g.X:135741339C>T,c.551C>T,p.S184L
CD40LG(NM_000074,CD40 ligand,261aa) g.X:135741330G>A,c.542G>A,p.R181Q
CD40LG(NM_000074,CD40 ligand,261aa) g.X:135741275G>A,c.487G>A,p.V163I
CD40LG(NM_000074,CD40 ligand,261aa) g.X:135732454del,c.186del,p.62fs
CD3G(NM_000073,CD3g molecule, gamma (CD3-TCR complex),182aa) g.11:118223146T>C,c.511T>C,p.Y171H
CD3G(NM_000073,CD3g molecule, gamma (CD3-TCR complex),182aa) g.11:118221350G>T,c.391G>T,p.V131F
CD3E(NM_000733,CD3e molecule, epsilon (CD3-TCR complex),207aa) g.11:118183459G>A,c.230G>A,p.S77N
CD3E(NM_000733,CD3e molecule, epsilon (CD3-TCR complex),207aa) g.11:118183440G>C,c.211G>C,p.D71H
CD3E(NM_000733,CD3e molecule, epsilon (CD3-TCR complex),207aa) g.11:118182885C>T,c.103C>T,p.P35S
CD3EAP(NM_012099,CD3e molecule, epsilon associated protein,510aa) g.19:45912736C>A,c.1510C>A,p.Q504K
CD3EAP(NM_012099,CD3e molecule, epsilon associated protein,510aa) g.19:45912490_45912492del,c.1264_1266del,p.422del
CD3EAP(NM_012099,CD3e molecule, epsilon associated protein,510aa) g.19:45912406G>A,c.1180G>A,p.D394N
CD3EAP(NM_012099,CD3e molecule, epsilon associated protein,510aa) g.19:45912343A>G,c.1117A>G,p.K373E
CD3EAP(NM_012099,CD3e molecule, epsilon associated protein,510aa) g.19:45912341C>T,c.1115C>T,p.A372V
CD3EAP(NM_012099,CD3e molecule, epsilon associated protein,510aa) g.19:45912257C>T,c.1031C>T,p.T344M
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