Unique variants in gene SGCA

Information The variants shown are described using the NM_000023.2 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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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.-90C>A r.(=) p.(=) g.48243312C>A - SGCA_000001 rs75145501 0.003876 2 516 3334 - - Admin
./. 1 - c.-9C>T r.(=) p.(=) g.48243393C>T - SGCA_000002 rs774714920 0.001938 1 516 8074 - - Admin
./. 1 - c.-8G>A r.(=) p.(=) g.48243394G>A - SGCA_000003 rs149296410 0.003876 2 516 8124 - - Admin
./. 1 - c.37+23G>A r.(=) p.(=) g.48243461G>A - SGCA_000004 rs79410682 0.058 30 516 9900 - - Admin
./. 1 - c.37+66C>T r.(=) p.(=) g.48243504C>T - SGCA_000005 rs9911548 0.992 512 516 13275 - - Admin
./. 1 - c.37+186C>T r.(=) p.(=) g.48243624C>T - SGCA_000006 rs570716848 0.001938 1 516 4049 1 - Admin
./. 1 - c.38-96C>T r.(=) p.(=) g.48244633C>T - SGCA_000007 rs148431038 0.016 8 516 5697 - - Admin
./. 1 - c.38-46G>C r.(=) p.(=) g.48244683G>C - SGCA_000008 rs142537375 0.007752 4 516 9268 - - Admin
./. 1 - c.38-30G>A r.(=) p.(=) g.48244699G>A - SGCA_000009 rs982735343 0.001938 1 516 9386 1 - Admin
./. 1 - c.158-11G>A r.(=) p.(=) g.48244932G>A - SGCA_000010 rs140261054 0.003876 2 516 9461 - - Admin
./. 1 - c.312+31G>T r.(=) p.(=) g.48245128G>T - SGCA_000011 rs747828491 0.001938 1 516 4634 - - Admin
./. 1 - c.312+83C>T r.(=) p.(=) g.48245180C>T - SGCA_000012 rs2696297 0.835 431 516 6592 - - Admin
./. 1 - c.313-39C>A r.(=) p.(=) g.48245269C>A - SGCA_000013 rs59944537 0.157 81 516 10035 - - Admin
./. 1 - c.421C>A r.(?) p.(Arg141Ser) g.48245770C>A - SGCA_000014 rs35130237 0.003876 2 516 5027 - - Admin
./. 1 - c.528C>T r.(=) p.(=) g.48245877C>T - SGCA_000015 rs1801190 0.005814 3 516 8390 - - Admin
./. 1 - c.584+100C>T r.(=) p.(=) g.48246033C>T - SGCA_000016 rs556348647 0.003922 2 510 2312 - - Admin
./. 1 - c.585-131T>G r.(=) p.(=) g.48246322T>G - SGCA_000017 rs556148302 0.001938 1 516 4463 - - Admin
./. 1 - c.585-123G>T r.(=) p.(=) g.48246330G>T - SGCA_000018 rs114123806 0.003876 2 516 4788 - - Admin
./. 1 - c.690G>C r.(=) p.(=) g.48246558G>C - SGCA_000019 rs139454982 0.001938 1 516 9578 - - Admin
./. 1 - c.747+87G>A r.(=) p.(=) g.48246702G>A - SGCA_000020 rs112838180 0.005814 3 516 4049 - - Admin
./. 1 - c.747+124A>T r.(=) p.(=) g.48246739A>T - SGCA_000021 rs776514178 0.001953 1 512 2114 - - Admin
./. 1 - c.843C>A r.(=) p.(=) g.48247599C>A - SGCA_000022 rs149487996 0.001938 1 516 9441 - - Admin
./. 1 - c.850C>T r.(?) p.(Arg284Cys) g.48247606C>T - SGCA_000023 rs137852623 0.001938 1 516 9442 - - Admin
./. 1 - c.933C>T r.(=) p.(=) g.48247689C>T - SGCA_000024 rs1801191 0.056 29 516 9311 - - Admin
./. 1 - c.957-50del r.(=) p.(=) g.48247951del - SGCA_000025 rs199590719 0.056 29 516 9311 - - Admin
./. 1 - c.983+53G>C r.(=) p.(=) g.48248080G>C - SGCA_000026 rs969818451 0.001938 1 516 7556 1 - Admin
./. 1 - c.983+56C>A r.(=) p.(=) g.48248083C>A - SGCA_000027 rs147162020 0.001938 1 516 7442 - - Admin
./. 1 - c.983+148C>T r.(=) p.(=) g.48248175C>T - SGCA_000028 rs193052653 0.001938 1 516 2641 - - Admin
./. 1 - c.983+879C>G r.(=) p.(=) g.48248906C>G - SGCA_000029 rs1046329 0.194 100 516 8401 - - Admin
./. 1 - c.983+893C>T r.(=) p.(=) g.48248920C>T - SGCA_000030 rs151305009 0.005814 3 516 8292 - - Admin
./. 1 - c.983+971C>T r.(=) p.(=) g.48248998C>T - SGCA_000031 rs36107109 0.14 72 516 10527 - - Admin
./. 1 - c.983+1120C>T r.(=) p.(=) g.48249147C>T - SGCA_000032 rs202159116 0.003876 2 516 10388 - - Admin
./. 1 - c.983+1343G>A r.(=) p.(=) g.48249370G>A - SGCA_000033 rs144326926 0.003876 2 516 10307 - - Admin
./. 1 - c.983+1365C>T r.(=) p.(=) g.48249392C>T - SGCA_000034 rs562768303 0.001938 1 516 10274 1 - Admin
./. 1 - c.983+1423C>G r.(=) p.(=) g.48249450C>G - SGCA_000035 rs2696293 0.729 376 516 12924 - - Admin
./. 1 - c.983+1451G>T r.(=) p.(=) g.48249478G>T - SGCA_000036 rs79284438 0.005814 3 516 9878 - - Admin
./. 1 - c.983+1574C>T r.(=) p.(=) g.48249601C>T - SGCA_000037 rs76235917 0.007752 4 516 9821 - - Admin
./. 1 - c.983+1594G>C r.(=) p.(=) g.48249621G>C - SGCA_000038 rs28625650 0.029 15 516 9904 - - Admin
./. 1 - c.983+1737C>T r.(=) p.(=) g.48249764C>T - SGCA_000039 rs762248646 0.001938 1 516 5830 - - Admin
./. 1 - c.983+1774C>A r.(=) p.(=) g.48249801C>A - SGCA_000040 rs2696292 0.136 70 516 3724 - - Admin
./. 1 - c.*6T>C r.(=) p.(=) g.48252804T>C - SGCA_000041 rs2696288 0.946 488 516 8569 - - Admin
./. 1 - c.*10C>G r.(=) p.(=) g.48252808C>G - SGCA_000042 rs60300808 0.001938 1 516 8217 - - Admin
./. 1 - c.*12+24C>T r.(=) p.(=) g.48252834C>T - SGCA_000043 rs764804960 0.001938 1 516 7969 - - Admin
./. 1 - c.*92C>T r.(=) p.(=) g.48253152C>T - SGCA_000044 rs77472740 0.031 16 516 5075 - - Admin
./. 1 - c.*134del r.(=) p.(=) g.48253194del - SGCA_000045 rs201486782 0.031 16 516 5075 - - Admin
./. 1 - c.*166A>G r.(=) p.(=) g.48253226A>G - SGCA_000046 rs73987439 0.064 33 516 5493 - - Admin
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