All transcript variants in gene SPTLC2

Information The variants shown are described using the NM_004863.3 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
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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.-43C>T r.(=) p.(=) g.78082965G>A - SPTLC2_000048 rs7155278 0.017 9 516 4994 - - Admin
./. - c.-30G>T r.(=) p.(=) g.78082952C>A - SPTLC2_000047 rs142320856 0.045 23 516 5614 - - Admin
./. - c.133-101del r.(=) p.(=) g.78063824del - SPTLC2_000046 rs34670650 0.005814 3 516 4524 - - Admin
./. - c.162A>C r.(=) p.(=) g.78063694T>G - SPTLC2_000045 rs115191009 0.005814 3 516 4524 - - Admin
./. - c.174G>A r.(=) p.(=) g.78063682C>T - SPTLC2_000044 rs373828710 0.005814 3 516 5093 - - Admin
./. - c.327+89T>G r.(=) p.(=) g.78063440A>C - SPTLC2_000043 rs12435993 0.127 56 440 659 - - Admin
./. - c.328-54T>A r.(=) p.(=) g.78045506A>T - SPTLC2_000042 rs11849902 0.00431 2 464 723 - - Admin
./. - c.328-30A>C r.(=) p.(=) g.78045482T>G - SPTLC2_000041 rs80060651 0.016 8 508 1256 - - Admin
./. - c.561A>G r.(=) p.(=) g.78043180T>C - SPTLC2_000040 rs143934634 0.001938 1 516 4184 - - Admin
./. - c.631+130del r.(=) p.(=) g.78042980del - SPTLC2_000039 rs148802575 0.001992 1 502 1613 - - Admin
./. - c.632-86T>C r.(=) p.(=) g.78036937A>G - SPTLC2_000038 - 0.001992 1 502 1613 1 0 Admin
./. - c.632-84T>C r.(=) p.(=) g.78036935A>G - SPTLC2_000037 rs4903606 0.502 249 496 1765 - - Admin
./. - c.632-73_632-69del r.(=) p.(=) g.78036920_78036924del - SPTLC2_000036 rs371439273 0.001938 1 516 2833 1 0 Admin
./. - c.632-49del r.(=) p.(=) g.78036900del - SPTLC2_000035 rs11344772 0.007752 4 516 6961 - - Admin
./. - c.723G>A r.(=) p.(=) g.78036760C>T - SPTLC2_000034 rs114519796 0.007752 4 516 6961 - - Admin
./. - c.723G>T r.(=) p.(=) g.78036760C>A - SPTLC2_000033 rs114519796 0.003876 2 516 6961 - - Admin
./. - c.756+42C>T r.(=) p.(=) g.78036685G>A - SPTLC2_000032 rs567230916 0.001938 1 516 3649 - - Admin
./. - c.756+69G>C r.(=) p.(=) g.78036658C>G - SPTLC2_000031 rs76545605 0.079 41 516 2620 - - Admin
./. - c.756+73G>A r.(=) p.(=) g.78036654C>T - SPTLC2_000030 rs77140106 0.003876 2 516 2470 - - Admin
./. - c.786T>C r.(=) p.(=) g.78028803A>G - SPTLC2_000029 rs2364602 0.864 446 516 6053 - - Admin
./. - c.850+34G>A r.(=) p.(=) g.78028705C>T - SPTLC2_000028 rs45613436 0.048 25 516 2434 - - Admin
./. - c.851-30G>C r.(=) p.(=) g.78023519C>G - SPTLC2_000027 rs2272587 0.496 255 514 3297 - - Admin
./. - c.956+83A>G r.(=) p.(=) g.78023301T>C - SPTLC2_000026 rs116670813 0.003876 2 516 2334 - - Admin
./. - c.957-109A>G r.(=) p.(=) g.78021971T>C - SPTLC2_000025 rs138521356 0.002381 1 420 580 - - Admin
./. - c.957-90C>T r.(=) p.(=) g.78021952G>A - SPTLC2_000024 rs79502009 0.038 18 480 1099 - - Admin
./. - c.957-44C>G r.(=) p.(=) g.78021906G>C - SPTLC2_000023 rs113823362 0.001938 1 516 2521 - - Admin
./. - c.957-36A>G r.(=) p.(=) g.78021898T>C - SPTLC2_000022 rs1176141685 0.001938 1 516 2833 1 0 Admin
./. - c.1017A>G r.(=) p.(=) g.78021802T>C - SPTLC2_000021 rs149375041 0.001938 1 516 6267 - - Admin
./. - c.1176+7G>A r.(=) p.(=) g.78021636C>T - SPTLC2_000020 rs74063297 0.003906 2 512 1977 - - Admin
./. - c.1177-49G>A r.(=) p.(=) g.78018614C>T - SPTLC2_000019 rs2178876 0.975 503 516 7772 - - Admin
./. - c.1227G>A r.(=) p.(=) g.78018515C>T - SPTLC2_000018 rs9323646 0.005814 3 516 8974 - - Admin
./. - c.1303+79A>G r.(=) p.(=) g.78018360T>C - SPTLC2_000017 rs1176085676 0.001938 1 516 4156 1 0 Admin
./. - c.1303+90_1303+93del r.(=) p.(=) g.78018346_78018349del - SPTLC2_000016 rs1465782338 0.237 93 392 812 - - Admin
./. - c.1303+193A>G r.(=) p.(=) g.78018246T>C - SPTLC2_000015 rs11159275 0.237 93 392 812 - - Admin
./. - c.1304-14462C>T r.(=) p.(=) g.78002386G>A - SPTLC2_000014 rs112611170 0.017 9 516 9066 - - Admin
./. - c.1304-14365C>G r.(=) p.(=) g.78002289G>C - SPTLC2_000013 rs147204783 0.014 7 516 9217 - - Admin
./. - c.1304-14342C>T r.(=) p.(=) g.78002266G>A - SPTLC2_000012 rs187275323 0.00969 5 516 9066 - - Admin
./. - c.1304-14309T>A r.(=) p.(=) g.78002233A>T - SPTLC2_000011 rs531443923 0.001938 1 516 8153 - - Admin
./. - c.1304-14299C>T r.(=) p.(=) g.78002223G>A - SPTLC2_000010 rs28628767 0.171 88 516 7634 - - Admin
./. - c.1304-34G>T r.(=) p.(=) g.77987958C>A - SPTLC2_000009 rs2072672 0.687 353 514 2932 - - Admin
./. - c.1428T>G r.(=) p.(=) g.77987800A>C - SPTLC2_000008 rs34418677 0.003876 2 516 5853 - - Admin
./. - c.1440-63G>A r.(=) p.(=) g.77984573C>T - SPTLC2_000007 rs926114 0.975 503 516 3721 - - Admin
./. - c.1440-30T>G r.(=) p.(=) g.77984540A>C - SPTLC2_000006 rs140089337 0.023 12 516 4480 - - Admin
./. - c.1473C>T r.(=) p.(=) g.77984477G>A - SPTLC2_000005 rs374308415 0.001938 1 516 5278 - - Admin
./. - c.1569+16C>T r.(=) p.(=) g.77984365G>A - SPTLC2_000004 rs756795773 0.001938 1 516 3224 - - Admin
./. - c.1570-107C>T r.(=) p.(=) g.77978853G>A - SPTLC2_000003 rs113163668 0.001938 1 516 2387 - - Admin
./. - c.1570-103C>T r.(=) p.(=) g.77978849G>A - SPTLC2_000002 rs45604132 0.003876 2 516 2545 - - Admin
./. - c.*6T>G r.(=) p.(=) g.77978621A>C - SPTLC2_000001 rs73319080 0.054 28 516 3107 - - Admin
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