Genename Variants
GIPC2(NM_017655,GIPC PDZ domain containing family, member 2,315aa) g.1:78511960C>T,c.182C>T,p.S61F
GIPC1(NM_005716,GIPC PDZ domain containing family, member 1,333aa) g.19:14593574C>T,c.215G>A,p.R72H
GIPC1(NM_005716,GIPC PDZ domain containing family, member 1,333aa) g.19:14590315G>A,c.677C>T,p.A226V
GIPC1(NM_005716,GIPC PDZ domain containing family, member 1,333aa) g.19:14590279G>C,c.713C>G,p.T238S
GINS4(NM_032336,GINS complex subunit 4 (Sld5 homolog),223aa) g.8:41399354G>A,c.511G>A,p.V171M
GINS4(NM_032336,GINS complex subunit 4 (Sld5 homolog),223aa) g.8:41397254C>G,c.355C>G,p.P119A
GINS4(NM_032336,GINS complex subunit 4 (Sld5 homolog),223aa) g.8:41394780C>G,c.265C>G,p.L89V
GINS4(NM_032336,GINS complex subunit 4 (Sld5 homolog),223aa) g.8:41394771C>T,c.256C>T,p.R86C
GINS3(NM_001126129,GINS complex subunit 3 (Psf3 homolog),255aa) g.16:58437167G>A,c.469G>A,p.G157R
GINS3(NM_001126129,GINS complex subunit 3 (Psf3 homolog),255aa) g.16:58437056C>T,c.358C>T,p.R120X
GINS3(NM_001126129,GINS complex subunit 3 (Psf3 homolog),255aa) g.16:58429094C>G,c.275C>G,p.P92R
GINS2(NM_016095,GINS complex subunit 2 (Psf2 homolog),185aa) g.16:85722434T>C,c.71A>G,p.D24G
GINS2(NM_016095,GINS complex subunit 2 (Psf2 homolog),185aa) g.16:85712190C>T,c.388G>A,p.V130M
GINS1(NM_021067,GINS complex subunit 1 (Psf1 homolog),196aa) g.20:25398790G>A,c.289G>A,p.V97I
GINM1(NM_138785,glycoprotein integral membrane 1,330aa) g.6:149903738_149903741del,c.880_881del,p.294fs
GINM1(NM_138785,glycoprotein integral membrane 1,330aa) g.6:149903633G>A,c.775G>A,p.V259I
GINM1(NM_138785,glycoprotein integral membrane 1,330aa) g.6:149903597A>G,c.739A>G,p.K247E
GINM1(NM_138785,glycoprotein integral membrane 1,330aa) g.6:149901016G>A,c.476G>A,p.R159Q
GINM1(NM_138785,glycoprotein integral membrane 1,330aa) g.6:149900005A>G,c.325A>G,p.I109V
GIN1(NM_017676,gypsy retrotransposon integrase 1,522aa) g.5:102440516del,c.368del,p.123fs
GIN1(NM_017676,gypsy retrotransposon integrase 1,522aa) g.5:102433434G>A,c.691C>T,p.H231Y
GIN1(NM_017676,gypsy retrotransposon integrase 1,522aa) g.5:102433409G>A,c.716C>T,p.T239M
GIN1(NM_017676,gypsy retrotransposon integrase 1,522aa) g.5:102433082T>C,c.944A>G,p.K315R
GIMD1(NM_001195138,GIMAP family P-loop NTPase domain containing 1,217aa) g.4:107288334A>T,c.259T>A,p.Y87N
GIMD1(NM_001195138,GIMAP family P-loop NTPase domain containing 1,217aa) g.4:107279518T>C,c.476A>G,p.E159G
GIMD1(NM_001195138,GIMAP family P-loop NTPase domain containing 1,217aa) g.4:107279482T>A,c.512A>T,p.K171I
GIMD1(NM_001195138,GIMAP family P-loop NTPase domain containing 1,217aa) g.4:107279479G>A,c.515C>T,p.T172M
GIMD1(NM_001195138,GIMAP family P-loop NTPase domain containing 1,217aa) g.4:107279450C>T,c.544G>A,p.V182I
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