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)     

Position     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Owner     
./. 1 - c.165+1413G>A - - - g.94873324C>T dbSNP SPTLC1_000012 rs11790991 0.80574 Admin
./. 1 - c.166-604G>A - - - g.94871720C>T dbSNP SPTLC1_000011 rs7848874 0.47635 Admin
./. 1 - c.260+870T>G - - - g.94870152A>C dbSNP SPTLC1_000010 rs1970121 0.76858 Admin
./. 1 - c.427+318G>A - - - g.94841980C>T dbSNP SPTLC1_000009 rs10820938 0.10811 Admin
./. 1 - c.428-1663T>C - - - g.94832043A>G dbSNP SPTLC1_000008 rs10992221 0.81419 Admin
./. 1 - c.428-594G>A - - - g.94830974C>T dbSNP SPTLC1_000007 rs10820936 0.74662 Admin
./. 1 - c.560+594T>C - - - g.94829654A>G dbSNP SPTLC1_000006 rs12235310 0.96115 Admin
./. 1 - c.561-950T>C - - - g.94822540A>G dbSNP SPTLC1_000005 rs7872515 0.79223 Admin
./. 1 - c.561-271G>A - - - g.94821861C>T dbSNP SPTLC1_000004 rs12237598 0.96284 Admin
./. 1 - c.690+204G>A - - - g.94821257C>T dbSNP SPTLC1_000003 rs7857759 0.80068 Admin
./. 1 - c.690+1015G>A - - - g.94820446C>T dbSNP SPTLC1_000002 rs1892268 0.52872 Admin
./. 1 - c.1136+783T>C - - - g.94807498A>G dbSNP SPTLC1_000001 rs7854213 0.91047 Admin
./. 1 - c.1255-84G>A - r.(=) p.(=) g.94797249C>T dbSNP SPTLC1_000015 rs10992207 0.00338 Admin
./. 1 - c.1255-7T>C - - - g.94797172A>G dbSNP SPTLC1_000014 rs7863487 0.99324 Admin
./. 1 - c.*445T>C - - - g.94794302A>G dbSNP SPTLC1_000013 rs7944 0.08108 Admin
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