Genename Variants
EML2(NM_001193268,echinoderm microtubule associated protein like 2,850aa) g.19:46129999C>A,c.1308G>T,p.E436D
EML2(NM_001193268,echinoderm microtubule associated protein like 2,850aa) g.19:46124848C>T,c.1492G>A,p.V498M
EML2(NM_001193268,echinoderm microtubule associated protein like 2,850aa) g.19:46124833C>T,c.1507G>A,p.A503T
EML2(NM_001193268,echinoderm microtubule associated protein like 2,850aa) g.19:46124821C>T,c.1519G>A,p.G507R
EML2(NM_001193268,echinoderm microtubule associated protein like 2,850aa) g.19:46124782C>A,c.1558G>T,p.V520F
EML2(NM_001193268,echinoderm microtubule associated protein like 2,850aa) g.19:46124517C>T,c.1673G>A,p.R558H
EML2(NM_001193268,echinoderm microtubule associated protein like 2,850aa) g.19:46119772C>G,c.2059G>C,p.V687L
EML2(NM_001193268,echinoderm microtubule associated protein like 2,850aa) g.19:46117952G>A,c.2207C>T,p.P736L
EML1(NM_001008707,echinoderm microtubule associated protein like 1,834aa) g.14:100405588A>G,c.2303A>G,p.H768R
EML1(NM_001008707,echinoderm microtubule associated protein like 1,834aa) g.14:100402638G>A,c.2119G>A,p.V707M
EML1(NM_001008707,echinoderm microtubule associated protein like 1,834aa) g.14:100380948T>C,c.1723T>C,p.S575P
EML1(NM_001008707,echinoderm microtubule associated protein like 1,834aa) g.14:100375707C>T,c.1187C>T,p.A396V
EML1(NM_001008707,echinoderm microtubule associated protein like 1,834aa) g.14:100363561G>A,c.814G>A,p.V272M
EML1(NM_001008707,echinoderm microtubule associated protein like 1,834aa) g.14:100331926G>A,c.326G>A,p.G109D
EML1(NM_001008707,echinoderm microtubule associated protein like 1,834aa) g.14:100331893A>G,c.293A>G,p.N98S
EMILIN3(NM_052846,elastin microfibril interfacer 3,766aa) g.20:39995111T>G,c.164A>C,p.H55P
EMILIN3(NM_052846,elastin microfibril interfacer 3,766aa) g.20:39992497G>A,c.295C>T,p.R99C
EMILIN3(NM_052846,elastin microfibril interfacer 3,766aa) g.20:39992409C>G,c.383G>C,p.R128P
EMILIN3(NM_052846,elastin microfibril interfacer 3,766aa) g.20:39992391G>A,c.401C>T,p.T134M
EMILIN3(NM_052846,elastin microfibril interfacer 3,766aa) g.20:39991635G>A,c.574C>T,p.R192C
EMILIN3(NM_052846,elastin microfibril interfacer 3,766aa) g.20:39991587C>T,c.622G>A,p.E208K
EMILIN3(NM_052846,elastin microfibril interfacer 3,766aa) g.20:39991178C>T,c.1031G>A,p.G344D
EMILIN3(NM_052846,elastin microfibril interfacer 3,766aa) g.20:39990954C>T,c.1255G>A,p.E419K
EMILIN3(NM_052846,elastin microfibril interfacer 3,766aa) g.20:39990887G>A,c.1322C>T,p.T441M
EMILIN3(NM_052846,elastin microfibril interfacer 3,766aa) g.20:39990833C>T,c.1376G>A,p.G459E
EMILIN3(NM_052846,elastin microfibril interfacer 3,766aa) g.20:39990833C>G,c.1376G>C,p.G459A
EMILIN3(NM_052846,elastin microfibril interfacer 3,766aa) g.20:39990784C>G,c.1425G>C,p.Q475H
EMILIN3(NM_052846,elastin microfibril interfacer 3,766aa) g.20:39990711G>A,c.1498C>T,p.R500W
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