All transcript 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     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Heterozygote     

Homozygous     

Owner     
./. - c.165+1414G>A r.(=) p.(=) g.92111041C>T - SPTLC1_000012 rs11790991 0.8029 99 223 Admin
./. - c.166-603G>A - - g.92109437C>T - SPTLC1_000011 rs7848874 0.4838 154 87 Admin
./. - c.260+871T>G r.(=) p.(=) g.92107869A>C - SPTLC1_000010 rs1970121 0.7456 117 194 Admin
./. - c.427+319G>A - - g.92079697C>T - SPTLC1_000009 rs10820938 0.1132 61 8 Admin
./. - c.428-1662T>C r.(=) p.(=) g.92069760A>G - SPTLC1_000008 rs10992221 0.8059 96 225 Admin
./. - c.428-593G>A r.(=) p.(=) g.92068691C>T - SPTLC1_000007 rs10820936 0.7338 133 182 Admin
./. - c.560+595T>C - - g.92067371A>G - SPTLC1_000006 rs12235310 0.9544 29 309 Admin
./. - c.561-949T>C - - g.92060257A>G - SPTLC1_000005 rs7872515 0.7809 109 210 Admin
./. - c.561-270G>A r.(=) p.(=) g.92059578C>T - SPTLC1_000004 rs12237598 0.9471 32 305 Admin
./. - c.690+205G>A - - g.92058974C>T - SPTLC1_000003 rs7857759 0.7956 108 216 Admin
./. - c.690+1016G>A - - g.92058163C>T - SPTLC1_000002 rs1892268 0.5162 164 93 Admin
./. - c.1136+784T>C - - g.92045215A>G - SPTLC1_000001 rs7854213 0.9132 49 285 Admin
./. - c.1255-83G>A - - g.92034966C>T - SPTLC1_000015 rs10992207 0.0088 6 0 Admin
./. - c.1255-6T>C - - g.92034889A>G - SPTLC1_000014 rs7863487 0.9897 7 332 Admin
./. - c.*446T>C - - g.92032019A>G - SPTLC1_000013 rs7944 0.1015 47 11 Admin
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