All transcript variants in gene ABHD6

Information The variants shown are described using the NM_020676.5 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Owner     
./. - c.-25-23G>A r.(=) p.(=) g.58242266G>A - ABHD6_000001 rs147054175 0.001938 1 516 6133 - - Admin
./. - c.-23G>A r.(=) p.(=) g.58242291G>A - ABHD6_000002 rs201169634 0.001938 1 516 6649 - - Admin
./. - c.44C>T r.(?) p.(Thr15Met) g.58242357C>T - ABHD6_000003 rs149534483 0.001938 1 516 4498 - - Admin
./. - c.119+1788C>A r.(=) p.(=) g.58244220C>A - ABHD6_000004 rs72886146 0.007752 4 516 8077 - - Admin
./. - c.119+1825C>G r.(=) p.(=) g.58244257C>G - ABHD6_000005 rs115539748 0.001938 1 516 7674 - - Admin
./. - c.119+1936_119+1937insT r.(=) p.(=) g.58244368_58244369insT - ABHD6_000006 rs113620714 - - - - - - Admin
./. - c.119+1950A>G r.(=) p.(=) g.58244382A>G - ABHD6_000007 rs565998792 0.001946 1 514 2156 - - Admin
./. - c.276+91A>C r.(=) p.(=) g.58253163A>C - ABHD6_000008 rs34631799 0.018 9 514 2057 - - Admin
./. - c.277-140G>C r.(=) p.(=) g.58254908G>C - ABHD6_000009 rs1424364276 0.001938 1 516 3285 1 0 Admin
./. - c.277-111C>T r.(=) p.(=) g.58254937C>T - ABHD6_000010 rs189615733 0.001938 1 516 4890 - - Admin
./. - c.277-78A>G r.(=) p.(=) g.58254970A>G - ABHD6_000011 rs1028043048 0.001938 1 516 6630 1 0 Admin
./. - c.338G>A r.(?) p.(Arg113His) g.58255109G>A - ABHD6_000012 rs200333190 0.003876 2 516 9003 - - Admin
./. - c.390+120G>A r.(=) p.(=) g.58255281G>A - ABHD6_000013 rs181588328 0.001938 1 516 4449 - - Admin
./. - c.390+157A>T r.(=) p.(=) g.58255318A>T - ABHD6_000014 rs17059096 0.072 37 516 3385 - - Admin
./. - c.681+5C>T r.spl? p.? g.58260547C>T - ABHD6_000015 rs115434226 0.005814 3 516 4203 - - Admin
./. - c.682-129_682-128insCAGG r.(=) p.(=) g.58270683_58270684insCAGG - ABHD6_000016 rs200572554 - - - - - - Admin
./. - c.682-59G>C r.(=) p.(=) g.58270753G>C - ABHD6_000017 rs369895343 0.001938 1 516 6634 - - Admin
./. - c.682-58A>C r.(=) p.(=) g.58270754A>C - ABHD6_000018 rs147830332 0.005814 3 516 6678 - - Admin
./. - c.736+97T>C r.(=) p.(=) g.58270963T>C - ABHD6_000019 rs6774235 0.7 361 516 4022 - - Admin
./. - c.806C>T r.(?) p.(Pro269Leu) g.58271149C>T - ABHD6_000020 rs749259997 0.001938 1 516 5630 - - Admin
./. - c.838-56C>T r.(=) p.(=) g.58279260C>T - ABHD6_000021 rs893454719 0.001953 1 512 1943 1 0 Admin
./. - c.946A>T r.(?) p.(Thr316Ser) g.58279424A>T - ABHD6_000022 rs1266339364 0.001938 1 516 8017 1 0 Admin
./. - c.992A>G r.(?) p.(Asp331Gly) g.58279470A>G - ABHD6_000023 rs146742146 0.001938 1 516 7160 - - Admin
./. - c.*95G>A r.(=) p.(=) g.58279587G>A - ABHD6_000024 rs543673473 0.001961 1 510 1755 - - Admin
Legend