All transcript variants in gene ABCA8

Information The variants shown are described using the NM_007168.3 transcript reference sequence.

29 entries on 1 page. Showing entries 1 - 29.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Heterozygote     

Homozygous     

Owner     
./. - c.-5-5557T>C r.(=) p.(=) g.68947596A>G - ABCA8_000027 rs4147951 0.5471 155 108 Admin
./. - c.97-157T>C r.(=) p.(=) g.68941119A>G - ABCA8_000026 rs4147961 0.5147 157 96 Admin
./. - c.302-544G>A - - g.68937659C>T - ABCA8_000025 rs10512521 0.9618 22 315 Admin
./. - c.466+90T>C - - g.68936861A>G - ABCA8_000024 rs4147967 0.7706 94 214 Admin
./. - c.571-32G>A - - g.68932546C>T - ABCA8_000023 rs16973452 0.0603 33 4 Admin
./. - c.793G>A - - g.68932292C>T - ABCA8_000022 rs3826430 0.0265 16 1 Admin
./. - c.797+1010G>A - - g.68931278C>T - ABCA8_000021 rs11656365 0.4662 150 83 Admin
./. - c.798-66T>C r.(=) p.(=) g.68929768A>G - ABCA8_000020 rs4147977 0.4750 170 76 Admin
./. - c.939+29G>A - - g.68929532C>T - ABCA8_000019 rs4147978 0.9676 16 320 Admin
./. - c.1443-387T>C r.(=) p.(=) g.68922687A>G - ABCA8_000018 rs4147983 0.9574 29 310 Admin
./. - c.2278+971C>A - - g.68905073G>T - ABCA8_000017 rs1373068 0.5868 147 126 Admin
./. - c.2279-1154C>A - - g.68904653G>T - ABCA8_000029 rs4147996 0.0265 12 3 Admin
./. - c.2279-69G>C - - g.68903568C>G - ABCA8_000028 rs3744494 0.4103 165 57 Admin
./. - c.2477+153G>A - - g.68903148C>T - ABCA8_000016 rs4147997 0.2015 95 20 Admin
./. - c.2477+182T>C - - g.68903119A>G - ABCA8_000015 rs7211979 0.8191 81 237 Admin
./. - c.2644+1315T>C r.(=) p.(=) g.68901398A>G - ABCA8_000014 rs8068204 0.8235 92 233 Admin
./. - c.2645-873T>C - - g.68895886A>G - ABCA8_000013 rs8074769 0.5691 163 111 Admin
./. - c.3025-1878G>A - - g.68889384C>T - ABCA8_000012 rs4147314 0.4309 153 70 Admin
./. - c.3025-1724G>A - - g.68889230C>T - ABCA8_000011 rs4147313 0.4221 161 63 Admin
./. - c.3025-1231G>A - - g.68888737C>T - ABCA8_000010 rs10852765 0.4235 170 59 Admin
./. - c.3709-256T>A r.(=) p.(=) g.68882236A>T - ABCA8_000009 rs1443261 0.1750 91 14 Admin
./. - c.3827-311G>C - - g.68881522C>G - ABCA8_000008 rs4968967 0.1750 97 11 Admin
./. - c.4123G>C r.(?) p.(Val1375Leu) g.68876660C>G - ABCA8_000007 rs1481 0.2441 94 36 Admin
./. - c.4251-200G>C - - g.68875933C>G - ABCA8_000006 rs8081061 0.9809 13 326 Admin
./. - c.4511+1172T>C - - g.68874088A>G - ABCA8_000005 rs8078836 0.0294 14 3 Admin
./. - c.4511+2081T>C - - g.68873179A>G - ABCA8_000004 rs6501834 0.5809 159 118 Admin
./. - c.4591+259T>C - - g.68869441A>G - ABCA8_000003 rs3744491 0.0162 11 0 Admin
./. - c.4591+346G>A - - g.68869354C>T - ABCA8_000002 rs9896422 0.3265 156 33 Admin
./. - c.4591+376G>C - - g.68869324C>G - ABCA8_000001 rs3826429 0.5691 147 120 Admin
Legend