Genename Variants
ATP8B2(NM_020452,ATPase, aminophospholipid transporter, class I, type 8B, member 2,1223aa) g.1:154320946G>A,c.3325G>A,p.V1109I
ATP8B2(NM_020452,ATPase, aminophospholipid transporter, class I, type 8B, member 2,1223aa) g.1:154318777A>G,c.2948A>G,p.N983S
ATP8B2(NM_020452,ATPase, aminophospholipid transporter, class I, type 8B, member 2,1223aa) g.1:154317489A>G,c.2428A>G,p.T810A
ATP8B2(NM_020452,ATPase, aminophospholipid transporter, class I, type 8B, member 2,1223aa) g.1:154317197A>G,c.2321A>G,p.K774R
ATP8B2(NM_020452,ATPase, aminophospholipid transporter, class I, type 8B, member 2,1223aa) g.1:154317170C>T,c.2294C>T,p.T765I
ATP8B2(NM_020452,ATPase, aminophospholipid transporter, class I, type 8B, member 2,1223aa) g.1:154317149G>A,c.2273G>A,p.R758H
ATP8B2(NM_020452,ATPase, aminophospholipid transporter, class I, type 8B, member 2,1223aa) g.1:154317124C>T,c.2248C>T,p.R750W
ATP8B2(NM_020452,ATPase, aminophospholipid transporter, class I, type 8B, member 2,1223aa) g.1:154316453C>T,c.1942C>T,p.R648C
ATP8B2(NM_020452,ATPase, aminophospholipid transporter, class I, type 8B, member 2,1223aa) g.1:154316412A>G,c.1901A>G,p.K634R
ATP8B2(NM_020452,ATPase, aminophospholipid transporter, class I, type 8B, member 2,1223aa) g.1:154316375G>A,c.1864G>A,p.A622T
ATP8B2(NM_020452,ATPase, aminophospholipid transporter, class I, type 8B, member 2,1223aa) g.1:154315322C>A,c.1437C>A,p.F479L
ATP8B2(NM_020452,ATPase, aminophospholipid transporter, class I, type 8B, member 2,1223aa) g.1:154314970G>A,c.1357G>A,p.V453I
ATP8B2(NM_020452,ATPase, aminophospholipid transporter, class I, type 8B, member 2,1223aa) g.1:154309918C>G,c.1031C>G,p.P344R
ATP8B2(NM_020452,ATPase, aminophospholipid transporter, class I, type 8B, member 2,1223aa) g.1:154309887G>A,c.1000G>A,p.E334K
ATP8B2(NM_020452,ATPase, aminophospholipid transporter, class I, type 8B, member 2,1223aa) g.1:154302929C>T,c.188C>T,p.A63V
ATP8B1(NM_005603,ATPase, aminophospholipid transporter, class I, type 8B, member 1,1251aa) g.18:55398906T>G,c.134A>C,p.N45T
ATP8B1(NM_005603,ATPase, aminophospholipid transporter, class I, type 8B, member 1,1251aa) g.18:55373817A>G,c.184T>C,p.C62R
ATP8B1(NM_005603,ATPase, aminophospholipid transporter, class I, type 8B, member 1,1251aa) g.18:55373793C>T,c.208G>A,p.D70N
ATP8B1(NM_005603,ATPase, aminophospholipid transporter, class I, type 8B, member 1,1251aa) g.18:55373767G>C,c.234C>G,p.H78Q
ATP8B1(NM_005603,ATPase, aminophospholipid transporter, class I, type 8B, member 1,1251aa) g.18:55362430A>T,c.913T>A,p.F305I
ATP8B1(NM_005603,ATPase, aminophospholipid transporter, class I, type 8B, member 1,1251aa) g.18:55359108C>T,c.1151G>A,p.R384H
ATP8B1(NM_005603,ATPase, aminophospholipid transporter, class I, type 8B, member 1,1251aa) g.18:55359082T>C,c.1177A>G,p.I393V
ATP8B1(NM_005603,ATPase, aminophospholipid transporter, class I, type 8B, member 1,1251aa) g.18:55355674T>G,c.1286A>C,p.E429A
ATP8B1(NM_005603,ATPase, aminophospholipid transporter, class I, type 8B, member 1,1251aa) g.18:55351400A>G,c.1498T>C,p.Y500H
ATP8B1(NM_005603,ATPase, aminophospholipid transporter, class I, type 8B, member 1,1251aa) g.18:55342204C>T,c.1681G>A,p.A561T
ATP8B1(NM_005603,ATPase, aminophospholipid transporter, class I, type 8B, member 1,1251aa) g.18:55342156T>C,c.1729A>G,p.I577V
ATP8B1(NM_005603,ATPase, aminophospholipid transporter, class I, type 8B, member 1,1251aa) g.18:55342131T>C,c.1754A>G,p.E585G
ATP8B1(NM_005603,ATPase, aminophospholipid transporter, class I, type 8B, member 1,1251aa) g.18:55336626A>G,c.2021T>C,p.M674T
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