Unique variants in gene B3GALT5

Information The variants shown are described using the NM_001278650.1 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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Effect     

Reported     

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     
./. 1 - c.-3724del r.(=) p.(=) g.40981431del - B3GALT5_000002 rs879159784 0.001938 1 516 5410 - - Admin
./. 1 - c.-3724dup r.(=) p.(=) g.40981431dup - B3GALT5_000001 rs879159784 0.001938 1 516 5410 - - Admin
./. 1 - c.-3709T>A r.(=) p.(=) g.40981446T>A - B3GALT5_000003 rs73904079 0.009804 5 510 2490 - - Admin
./. 1 - c.-3639A>C r.(=) p.(=) g.40981516A>C - B3GALT5_000004 rs77607750 0.007752 4 516 4169 - - Admin
./. 1 - c.-3566C>T r.(=) p.(=) g.40981589C>T - B3GALT5_000005 rs74562558 0.003876 2 516 4434 - - Admin
./. 1 - c.-3546A>G r.(=) p.(=) g.40981609A>G - B3GALT5_000006 rs71316683 0.136 70 516 4195 - - Admin
./. 1 - c.-3518G>T r.(=) p.(=) g.40981637G>T - B3GALT5_000007 rs377319479 0.001938 1 516 3515 - - Admin
./. 1 - c.-876C>T r.(=) p.(=) g.40984279C>T - B3GALT5_000008 rs141178643 0.001938 1 516 8963 - - Admin
./. 1 - c.-846G>C r.(=) p.(=) g.40984309G>C - B3GALT5_000009 rs74789072 0.007752 4 516 8984 - - Admin
./. 1 - c.1-137A>G r.(=) p.(=) g.41032350A>G - B3GALT5_000010 rs538419006 0.001938 1 516 5443 - - Admin
./. 1 - c.1-8C>T r.(=) p.(=) g.41032479C>T - B3GALT5_000011 rs190984353 0.005814 3 516 6372 - - Admin
./. 1 - c.178G>A r.(?) p.(Val60Ile) g.41032664G>A - B3GALT5_000012 rs146778477 0.001938 1 516 8602 - - Admin
./. 1 - c.183G>C r.(=) p.(=) g.41032669G>C - B3GALT5_000013 rs746213645 0.001938 1 516 8667 - - Admin
./. 1 - c.254T>C r.(?) p.(Met85Thr) g.41032740T>C - B3GALT5_000014 rs3746887 0.733 378 516 10842 - - Admin
./. 1 - c.318G>A r.(=) p.(=) g.41032804G>A - B3GALT5_000015 rs734413 0.729 376 516 11305 - - Admin
./. 1 - c.330C>G r.(?) p.(Asp110Glu) g.41032816C>G - B3GALT5_000016 rs138837929 0.003876 2 516 9874 - - Admin
./. 1 - c.430C>T r.(?) p.(Arg144Cys) g.41032916C>T - B3GALT5_000017 rs778291682 0.001938 1 516 9817 - - Admin
./. 1 - c.431G>A r.(?) p.(Arg144His) g.41032917G>A - B3GALT5_000018 rs734411 0.001938 1 516 9766 - - Admin
./. 1 - c.476T>C r.(?) p.(Met159Thr) g.41032962T>C - B3GALT5_000019 rs201449827 0.001938 1 516 9501 - - Admin
./. 1 - c.576G>A r.(=) p.(=) g.41033062G>A - B3GALT5_000020 rs734412 0.058 30 516 7944 - - Admin
./. 1 - c.618G>A r.(=) p.(=) g.41033104G>A - B3GALT5_000021 rs146107292 0.005814 3 516 8538 - - Admin
./. 1 - c.877T>C r.(=) p.(=) g.41033363T>C - B3GALT5_000022 rs139601001 0.001938 1 516 6151 - - Admin
./. 1 - c.*52T>C r.(=) p.(=) g.41033471T>C - B3GALT5_000023 rs74843485 0.025 13 516 3553 - - Admin
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