Unique variants in gene SPTLC1

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

15 entries on 1 page. Showing entries 1 - 15.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Frequency     

Owner     
./. 1 - c.165+1414G>A r.(=) p.(=) g.92111041C>T dbSNP SPTLC1_000015 0.799 Admin
./. 1 - c.166-603G>A - - g.92109437C>T dbSNP SPTLC1_000014 0.492 Admin
./. 1 - c.260+871T>G r.(=) p.(=) g.92107869A>C dbSNP SPTLC1_000013 0.744 Admin
./. 1 - c.427+319G>A - - g.92079697C>T dbSNP SPTLC1_000012 0.108 Admin
./. 1 - c.428-1662T>C r.(=) p.(=) g.92069760A>G dbSNP SPTLC1_000011 0.811 Admin
./. 1 - c.428-593G>A r.(=) p.(=) g.92068691C>T dbSNP SPTLC1_000010 0.737 Admin
./. 1 - c.560+595T>C - - g.92067371A>G dbSNP SPTLC1_000009 0.958 Admin
./. 1 - c.561-949T>C - - g.92060257A>G dbSNP SPTLC1_000008 0.777 Admin
./. 1 - c.561-270G>A r.(=) p.(=) g.92059578C>T dbSNP SPTLC1_000007 0.958 Admin
./. 1 - c.690+205G>A - - g.92058974C>T dbSNP SPTLC1_000006 0.790 Admin
./. 1 - c.690+1016G>A - - g.92058163C>T dbSNP SPTLC1_000005 0.511 Admin
./. 1 - c.1136+784T>C - - g.92045215A>G dbSNP SPTLC1_000004 0.919 Admin
./. 1 - c.1255-83G>A - - g.92034966C>T dbSNP SPTLC1_000003 0.011 Admin
./. 1 - c.1255-6T>C - - g.92034889A>G dbSNP SPTLC1_000002 0.992 Admin
./. 1 - c.*446T>C - - g.92032019A>G dbSNP SPTLC1_000001 0.089 Admin
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