Genename Variants
SI(NM_001041,sucrase-isomaltase (alpha-glucosidase),1827aa) g.3:164700167C>A,c.5279G>T,p.G1760V
SI(NM_001041,sucrase-isomaltase (alpha-glucosidase),1827aa) g.3:164700062G>A,c.5384C>T,p.S1795L
SI(NM_001041,sucrase-isomaltase (alpha-glucosidase),1827aa) g.3:164700041G>C,c.5405C>G,p.T1802S
SIN3B(NM_015260,SIN3 transcription regulator family member B,1162aa) g.19:16989046C>T,c.3103C>T,p.R1035C
SIN3B(NM_015260,SIN3 transcription regulator family member B,1162aa) g.19:16989010C>T,c.3067C>T,p.R1023C
SIN3B(NM_015260,SIN3 transcription regulator family member B,1162aa) g.19:16987312C>T,c.2878C>T,p.R960C
SIN3B(NM_015260,SIN3 transcription regulator family member B,1162aa) g.19:16980668C>T,c.2300C>T,p.P767L
SIN3B(NM_015260,SIN3 transcription regulator family member B,1162aa) g.19:16976399C>T,c.1658C>T,p.P553L
SIN3B(NM_015260,SIN3 transcription regulator family member B,1162aa) g.19:16962340G>A,c.844G>A,p.A282T
SIN3B(NM_015260,SIN3 transcription regulator family member B,1162aa) g.19:16962292A>G,c.796A>G,p.S266G
SIN3B(NM_015260,SIN3 transcription regulator family member B,1162aa) g.19:16962235G>A,c.739G>A,p.G247R
SIN3A(NM_001145358,SIN3 transcription regulator family member A,1273aa) g.15:75685083T>C,c.2351A>G,p.K784R
SIN3A(NM_001145358,SIN3 transcription regulator family member A,1273aa) g.15:75684870T>C,c.2564A>G,p.N855S
SIN3A(NM_001145358,SIN3 transcription regulator family member A,1273aa) g.15:75674043T>C,c.3199A>G,p.M1067V
SIN3A(NM_001145358,SIN3 transcription regulator family member A,1273aa) g.15:75668171C>A,c.3426G>T,p.Q1142H
SIN3A(NM_001145358,SIN3 transcription regulator family member A,1273aa) g.15:75664472G>A,c.3670C>T,p.R1224C
SIMC1(NM_198567,SUMO-interacting motifs containing 1,457aa) g.5:175772440G>A,c.1366G>A,p.G456S
SIMC1(NM_198567,SUMO-interacting motifs containing 1,457aa) g.5:175751669G>A,c.778G>A,p.V260I
SIMC1(NM_198567,SUMO-interacting motifs containing 1,457aa) g.5:175740782G>A,c.521G>A,p.R174Q
SIMC1(NM_198567,SUMO-interacting motifs containing 1,457aa) g.5:175740736G>A,c.475G>A,p.V159I
SIMC1(NM_198567,SUMO-interacting motifs containing 1,457aa) g.5:175740713G>A,c.452G>A,p.R151Q
SIMC1(NM_198567,SUMO-interacting motifs containing 1,457aa) g.5:175722243A>G,c.340A>G,p.M114V
SIM2(NM_005069,single-minded homolog 2 (Drosophila),667aa) g.21:38117308C>A,c.1447C>A,p.L483M
SIM2(NM_005069,single-minded homolog 2 (Drosophila),667aa) g.21:38115689G>A,c.1000G>A,p.E334K
SIM2(NM_005069,single-minded homolog 2 (Drosophila),667aa) g.21:38114149G>T,c.982G>T,p.V328F
SIM2(NM_005069,single-minded homolog 2 (Drosophila),667aa) g.21:38114114A>G,c.947A>G,p.N316S
SIM2(NM_005069,single-minded homolog 2 (Drosophila),667aa) g.21:38081500G>A,c.208G>A,p.A70T
SIM2(NM_005069,single-minded homolog 2 (Drosophila),667aa) g.21:38081480C>T,c.188C>T,p.A63V
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