Genename Variants
ERAL1(NM_005702,Era-like 12S mitochondrial rRNA chaperone 1,437aa) g.17:27182063C>T,c.11C>T,p.P4L
EQTN(NM_020641,equatorin, sperm acrosome associated,294aa) g.9:27297053T>C,c.1A>G,p.M1V
EQTN(NM_020641,equatorin, sperm acrosome associated,294aa) g.9:27292474T>C,c.301A>G,p.N101D
EQTN(NM_020641,equatorin, sperm acrosome associated,294aa) g.9:27292446A>G,c.329T>C,p.I110T
EQTN(NM_020641,equatorin, sperm acrosome associated,294aa) g.9:27286353A>T,c.489T>A,p.D163E
EQTN(NM_020641,equatorin, sperm acrosome associated,294aa) g.9:27284785G>T,c.821C>A,p.T274K
EQTN(NM_020641,equatorin, sperm acrosome associated,294aa) g.9:27284725C>T,c.881G>A,p.R294Q
EPYC(NM_004950,epiphycan,322aa) g.12:91396198T>C,c.145A>G,p.I49V
EPYC(NM_004950,epiphycan,322aa) g.12:91366649G>C,c.449C>G,p.S150C
EPYC(NM_004950,epiphycan,322aa) g.12:91365717G>A,c.562C>T,p.R188X
EPYC(NM_004950,epiphycan,322aa) g.12:91365684G>T,c.595C>A,p.R199S
EPYC(NM_004950,epiphycan,322aa) g.12:91365576C>G,c.702+1G>C,p.234Donor
EPYC(NM_004950,epiphycan,322aa) g.12:91358072G>A,c.830C>T,p.T277M
EPYC(NM_004950,epiphycan,322aa) g.12:91357976G>T,c.926C>A,p.A309E
EPX(NM_000502,eosinophil peroxidase,715aa) g.17:56281722C>T,c.2086C>T,p.R696W
EPX(NM_000502,eosinophil peroxidase,715aa) g.17:56281674G>A,c.2038G>A,p.G680S
EPX(NM_000502,eosinophil peroxidase,715aa) g.17:56281630C>A,c.1994C>A,p.A665D
EPX(NM_000502,eosinophil peroxidase,715aa) g.17:56280675G>A,c.1942G>A,p.D648N
EPX(NM_000502,eosinophil peroxidase,715aa) g.17:56280607C>T,c.1874C>T,p.P625L
EPX(NM_000502,eosinophil peroxidase,715aa) g.17:56280568T>C,c.1835T>C,p.I612T
EPX(NM_000502,eosinophil peroxidase,715aa) g.17:56280447A>T,c.1714A>T,p.N572Y
EPX(NM_000502,eosinophil peroxidase,715aa) g.17:56277732C>T,c.1684C>T,p.R562X
EPX(NM_000502,eosinophil peroxidase,715aa) g.17:56277676G>A,c.1628G>A,p.R543Q
EPX(NM_000502,eosinophil peroxidase,715aa) g.17:56277600A>G,c.1552A>G,p.I518V
EPX(NM_000502,eosinophil peroxidase,715aa) g.17:56277030G>A,c.1412G>A,p.R471H
EPX(NM_000502,eosinophil peroxidase,715aa) g.17:56276940A>C,c.1322A>C,p.K441T
EPX(NM_000502,eosinophil peroxidase,715aa) g.17:56276536G>A,c.1256G>A,p.R419Q
EPX(NM_000502,eosinophil peroxidase,715aa) g.17:56276503G>A,c.1223G>A,p.R408Q
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