Unique variants in gene SPTLC1

Information The variants shown are described using the NM_006415.3 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
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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.-64T>C r.(=) p.(=) g.94877716A>G - SPTLC1_000048 rs55740103 0.083 43 516 8800 - - Admin
./. 1 - c.58-87A>C r.(=) p.(=) g.94874931T>G - SPTLC1_000047 rs536383492 0.001938 1 516 5437 - - Admin
./. 1 - c.58-56G>A r.(=) p.(=) g.94874900C>T - SPTLC1_000046 rs2297569 0.041 21 516 6229 - - Admin
./. 1 - c.261C>T r.(=) p.(=) g.94843245G>A - SPTLC1_000045 rs151283029 0.001938 1 516 2934 - - Admin
./. 1 - c.354+45T>G r.(=) p.(=) g.94843107A>C - SPTLC1_000044 rs201432015 0.001938 1 516 6429 - - Admin
./. 1 - c.354+173G>A r.(=) p.(=) g.94842979C>T - SPTLC1_000043 rs141317798 0.003891 2 514 1676 - - Admin
./. 1 - c.427+40A>G r.(=) p.(=) g.94842258T>C - SPTLC1_000042 rs1243125382 0.001938 1 516 4902 1 - Admin
./. 1 - c.427+130G>T r.(=) p.(=) g.94842168C>A - SPTLC1_000041 - 0.001946 1 514 1853 1 - Admin
./. 1 - c.427+299T>C r.(=) p.(=) g.94841999A>G - SPTLC1_000040 rs1043547770 0.001953 1 512 1288 1 - Admin
./. 1 - c.427+318C>T r.(=) p.(=) g.94841980G>A - SPTLC1_000039 rs10820938 0.089 46 514 1515 - - Admin
./. 1 - c.427+329G>A r.(=) p.(=) g.94841969C>T - SPTLC1_000038 rs57310547 0.027 14 516 1810 - - Admin
./. 1 - c.427+361C>T r.(=) p.(=) g.94841937G>A - SPTLC1_000037 rs41279063 0.076 39 514 2683 - - Admin
./. 1 - c.427+391A>G r.(=) p.(=) g.94841907T>C - SPTLC1_000036 - 0.001946 1 514 3366 1 - Admin
./. 1 - c.427+446C>T r.(=) p.(=) g.94841852G>A - SPTLC1_000035 rs200880124 0.005814 3 516 4581 - - Admin
./. 1 - c.427+571C>T r.(=) p.(=) g.94841727G>A - SPTLC1_000034 rs181424155 0.001938 1 516 3617 - - Admin
./. 1 - c.427+598T>C r.(=) p.(=) g.94841700A>G - SPTLC1_000033 rs143709136 0.001938 1 516 2511 - - Admin
./. 1 - c.427+606C>A r.(=) p.(=) g.94841692G>T - SPTLC1_000032 rs148939897 0.045 23 516 2231 - - Admin
./. 1 - c.452G>T r.(?) p.(Arg151Leu) g.94830356C>A - SPTLC1_000031 rs45461899 0.029 15 516 3498 - - Admin
./. 1 - c.560+16G>C r.(=) p.(=) g.94830232C>G - SPTLC1_000030 rs73512337 0.14 72 516 5988 - - Admin
./. 1 - c.561-151_561-150del r.(=) p.(=) g.94821740_94821741del - SPTLC1_000029 rs1039133210 0.001938 1 516 2419 1 - Admin
./. 1 - c.561-102T>G r.(=) p.(=) g.94821692A>C - SPTLC1_000028 rs908986278 0.001938 1 516 2419 1 - Admin
./. 1 - c.561-76C>G r.(=) p.(=) g.94821666G>C - SPTLC1_000027 rs56160856 0.079 41 516 3326 - - Admin
./. 1 - c.561-54A>G r.(=) p.(=) g.94821644T>C - SPTLC1_000026 rs139200143 0.001938 1 516 4113 - - Admin
./. 1 - c.690+63A>C r.(=) p.(=) g.94821398T>G - SPTLC1_000025 rs78907908 0.037 18 484 923 - - Admin
./. 1 - c.691-107del r.(=) p.(=) g.94817883del - SPTLC1_000024 rs34684548 0.001938 1 516 5671 - - Admin
./. 1 - c.691-100del r.(=) p.(=) g.94817876del - SPTLC1_000023 rs1399044529 0.001938 1 516 3638 1 - Admin
./. 1 - c.691-60T>C r.(=) p.(=) g.94817836A>G - SPTLC1_000022 rs543441677 0.001938 1 516 5671 - - Admin
./. 1 - c.780+92C>T r.(=) p.(=) g.94817595G>A - SPTLC1_000021 rs12006256 0.021 11 516 6826 - - Admin
./. 1 - c.781-6A>G r.(=) p.(=) g.94812355T>C - SPTLC1_000020 rs138268337 0.019 10 516 2786 - - Admin
./. 1 - c.784A>G r.(?) p.(Lys262Glu) g.94812346T>C - SPTLC1_000019 rs139086093 0.001938 1 516 3229 - - Admin
./. 1 - c.889-96G>T r.(=) p.(=) g.94810086C>A - SPTLC1_000018 rs56335035 0.016 8 508 1509 - - Admin
./. 1 - c.985-74A>G r.(=) p.(=) g.94809624T>C - SPTLC1_000017 rs77603445 0.003876 2 516 3746 - - Admin
./. 1 - c.985-5C>T r.spl? p.? g.94809555G>A - SPTLC1_000016 rs114380004 0.003876 2 516 6682 - - Admin
./. 1 - c.1081+47G>A r.(=) p.(=) g.94809407C>T - SPTLC1_000015 rs377135479 0.001938 1 516 3775 - - Admin
./. 1 - c.1136+12A>G r.(=) p.(=) g.94808269T>C - SPTLC1_000014 rs76562923 0.016 8 516 3316 - - Admin
./. 1 - c.1136+66G>A r.(=) p.(=) g.94808215C>T - SPTLC1_000013 rs77660866 0.021 11 514 3649 - - Admin
./. 1 - c.1136+89C>G r.(=) p.(=) g.94808192G>C - SPTLC1_000012 - 0.001938 1 516 3638 1 - Admin
./. 1 - c.1136+118A>G r.(=) p.(=) g.94808163T>C - SPTLC1_000011 rs77971588 0.021 11 516 3093 - - Admin
./. 1 - c.1137-43C>G r.(=) p.(=) g.94800690G>C - SPTLC1_000010 rs3750441 0.017 9 516 6648 - - Admin
./. 1 - c.1137-14_1137-13insGT r.(=) p.(=) g.94800660_94800661insAC - SPTLC1_000009 rs147137401 - - - - - - Admin
./. 1 - c.1255-84G>A r.(=) p.(=) g.94797249C>T - SPTLC1_000008 rs10992207 0.007752 4 516 6667 - - Admin
./. 1 - c.1255-7C>T r.(=) p.(=) g.94797172G>A - SPTLC1_000007 rs7863487 0.001938 1 516 8624 - - Admin
./. 1 - c.1328+52A>G r.(=) p.(=) g.94797040T>C - SPTLC1_000006 rs16908102 0.041 21 516 3881 - - Admin
./. 1 - c.1328+89A>C r.(=) p.(=) g.94797003T>G - SPTLC1_000005 rs7853177 0.001961 1 510 2128 - - Admin
./. 1 - c.1329-76A>G r.(=) p.(=) g.94794916T>C - SPTLC1_000004 rs971363406 0.004 2 500 1552 - 1 Admin
./. 1 - c.1329-9T>C r.(=) p.(=) g.94794849A>G - SPTLC1_000003 rs778388513 0.001938 1 516 3791 - - Admin
./. 1 - c.*112G>A r.(=) p.(=) g.94794635C>T - SPTLC1_000002 rs7024575 0.001938 1 516 6785 - - Admin
./. 1 - c.*124A>G r.(=) p.(=) g.94794623T>C - SPTLC1_000001 rs189582528 0.001938 1 516 6273 - - Admin
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