All transcript variants in gene ZACN

Information The variants shown are described using the NM_180990.3 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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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.80T>C r.(?) p.(Phe27Ser) g.74075425T>C - ZACN_000001 rs142734519 0.001938 1 516 9146 - - Admin
./. - c.183C>T r.(=) p.(=) g.74075605C>T - ZACN_000002 rs544704081 0.001938 1 516 9430 1 0 Admin
./. - c.267+47T>C r.(=) p.(=) g.74075874T>C - ZACN_000003 rs114867401 0.014 7 516 8751 - - Admin
./. - c.268-44A>G r.(=) p.(=) g.74075925A>G - ZACN_000004 rs750232134 0.001938 1 516 8212 - - Admin
./. - c.283C>T r.(?) p.(Arg95Cys) g.74075984C>T - ZACN_000005 rs113860382 0.005814 3 516 7003 - - Admin
./. - c.319G>A r.(?) p.(Ala107Thr) g.74076020G>A - ZACN_000006 rs144683704 0.001938 1 516 6727 - - Admin
./. - c.374+53del r.(=) p.(=) g.74076128del - ZACN_000007 rs34700740 0.001938 1 516 6727 - - Admin
./. - c.374+124C>T r.(=) p.(=) g.74076199C>T - ZACN_000008 rs117934323 0.012 6 516 3646 - - Admin
./. - c.375-53C>T r.(=) p.(=) g.74076283C>T - ZACN_000009 rs7210718 0.021 11 516 4599 - - Admin
./. - c.375-46G>A r.(=) p.(=) g.74076290G>A - ZACN_000010 rs116392333 0.007752 4 516 5067 - - Admin
./. - c.454G>A r.(?) p.(Ala152Thr) g.74076415G>A - ZACN_000011 rs2257020 0.589 304 516 19388 - - Admin
./. - c.543G>A r.(=) p.(=) g.74076504G>A - ZACN_000012 rs8066946 0.043 22 516 14138 - - Admin
./. - c.544+137G>A r.(=) p.(=) g.74076642G>A - ZACN_000013 rs2257028 0.498 257 516 18038 - - Admin
./. - c.544+156T>C r.(=) p.(=) g.74076661T>C - ZACN_000014 rs74826227 0.001938 1 516 10374 - - Admin
./. - c.544+191A>G r.(=) p.(=) g.74076696A>G - ZACN_000015 rs895716329 0.003876 2 516 10323 2 0 Admin
./. - c.544+196_544+197insC r.(=) p.(=) g.74076701_74076702insC - ZACN_000016 rs1057398831 - - - - - - Admin
./. - c.544+278G>A r.(=) p.(=) g.74076783G>A - ZACN_000017 rs746062140 0.003876 2 516 9910 - - Admin
./. - c.544+304C>T r.(=) p.(=) g.74076809C>T - ZACN_000018 rs73361864 0.001938 1 516 9520 - - Admin
./. - c.544+305G>A r.(=) p.(=) g.74076810G>A - ZACN_000019 rs200709249 0.007752 4 516 9470 - - Admin
./. - c.544+335C>G r.(=) p.(=) g.74076840C>G - ZACN_000020 - 0.001938 1 516 8810 1 0 Admin
./. - c.544+377C>T r.(=) p.(=) g.74076882C>T - ZACN_000021 rs754968223 0.003876 2 516 7806 - - Admin
./. - c.544+392G>C r.(=) p.(=) g.74076897G>C - ZACN_000022 rs752527215 0.001938 1 516 7914 - - Admin
./. - c.545-408C>A r.(=) p.(=) g.74076951C>A - ZACN_000023 rs761419490 0.003876 2 516 7835 - - Admin
./. - c.545-327T>C r.(=) p.(=) g.74077032T>C - ZACN_000024 - 0.001938 1 516 4490 1 0 Admin
./. - c.545-58A>C r.(=) p.(=) g.74077301A>C - ZACN_000025 rs113914389 0.001961 1 510 2724 - - Admin
./. - c.669+14G>C r.(=) p.(=) g.74077497G>C - ZACN_000026 rs8836 0.5 258 516 13959 - - Admin
./. - c.727G>A r.(?) p.(Ala243Thr) g.74077683G>A - ZACN_000027 rs143779733 0.001938 1 516 11186 - - Admin
./. - c.809T>C r.(?) p.(Leu270Pro) g.74077765T>C - ZACN_000028 rs201270879 0.003876 2 516 11164 - - Admin
./. - c.841C>T r.(?) p.(Gln281*) g.74077797C>T - ZACN_000029 rs1043149 0.176 91 516 13472 - - Admin
./. - c.978G>C r.(?) p.(Lys326Asn) g.74078060G>C - ZACN_000030 rs139224066 0.001938 1 516 8488 - - Admin
./. - c.1031G>A r.(?) p.(Gly344Glu) g.74078113G>A - ZACN_000031 rs140797843 0.016 8 516 6749 - - Admin
./. - c.1124T>C r.(?) p.(Val375Ala) g.74078619T>C - ZACN_000032 - 0.001938 1 516 9120 1 0 Admin
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