基因名 突变
SPACA1(NM_030960,sperm acrosome associated 1,294aa) g.6:88769214G>A,c.518G>A,p.R173H
SPACA1(NM_030960,sperm acrosome associated 1,294aa) g.6:88768503G>A,c.437G>A,p.R146H
SPACA1(NM_030960,sperm acrosome associated 1,294aa) g.6:88763673G>A,c.218G>A,p.R73K
SPA17(NM_017425,sperm autoantigenic protein 17,151aa) g.11:124545233C>T,c.73C>T,p.R25C
SP8(NM_198956,Sp8 transcription factor,490aa) g.7:20824941_20824943del,c.439_441del,p.147del
SP8(NM_198956,Sp8 transcription factor,490aa) g.7:20824044_20824052del,c.1330_1338del,p.444_446del
SP8(NM_198956,Sp8 transcription factor,490aa) g.7:20823926G>A,c.1456C>T,p.R486C
SP7(NM_001173467,Sp7 transcription factor,431aa) g.12:53723171T>C,c.55A>G,p.M19V
SP7(NM_001173467,Sp7 transcription factor,431aa) g.12:53723158G>A,c.68C>T,p.A23V
SP7(NM_001173467,Sp7 transcription factor,431aa) g.12:53722361G>A,c.865C>T,p.R289W
SP5(NM_001003845,Sp5 transcription factor,398aa) g.2:171573567G>C,c.850G>C,p.G284R
SP5(NM_001003845,Sp5 transcription factor,398aa) g.2:171573357G>A,c.640G>A,p.A214T
SP5(NM_001003845,Sp5 transcription factor,398aa) g.2:171572940G>A,c.223G>A,p.A75T
SP4(NM_003112,Sp4 transcription factor,784aa) g.7:21469640C>G,c.857C>G,p.P286R
SP4(NM_003112,Sp4 transcription factor,784aa) g.7:21469504C>G,c.721C>G,p.L241V
SP3(NM_003111,Sp3 transcription factor,781aa) g.2:174820926G>C,c.314C>G,p.A105G
SP3(NM_003111,Sp3 transcription factor,781aa) g.2:174820750T>C,c.490A>G,p.T164A
SP3(NM_003111,Sp3 transcription factor,781aa) g.2:174820272G>C,c.968C>G,p.T323S
SP3(NM_003111,Sp3 transcription factor,781aa) g.2:174820207T>C,c.1033A>G,p.S345G
SP3(NM_003111,Sp3 transcription factor,781aa) g.2:174774847C>T,c.2168G>A,p.R723Q
SP2(NM_003110,Sp2 transcription factor,613aa) g.17:46000412A>G,c.1144A>G,p.T382A
SP2(NM_003110,Sp2 transcription factor,613aa) g.17:46000406T>C,c.1138T>C,p.S380P
SP2(NM_003110,Sp2 transcription factor,613aa) g.17:45994116G>T,c.679G>T,p.A227S
SP2(NM_003110,Sp2 transcription factor,613aa) g.17:45994059G>A,c.622G>A,p.G208S
SP1(NM_138473,Sp1 transcription factor,785aa) g.12:53804875A>G,c.2209A>G,p.T737A
SP1(NM_138473,Sp1 transcription factor,785aa) g.12:53804747G>A,c.2081G>A,p.R694H
SP1(NM_138473,Sp1 transcription factor,785aa) g.12:53800381C>G,c.1688C>G,p.A563G
SP140(NM_007237,SP140 nuclear body protein,867aa) g.2:231152633C>T,c.1672C>T,p.R558C
注意:这是数据表的摘录,包括在我们的研究中观察到的已发表的多态性位点。 如需完整的变体列表和潜在合作,请联系 huh@cougarlab.org