Full data view for 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)     

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RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

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DB-ID     

dbSNP ID     

Frequency     

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Technique     

Disease     

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Owner     
./. - c.165+1413G>A - - - Unknown g.94873324C>T dbSNP SPTLC1_000012 rs11790991 0.80574 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.166-604G>A - - - Unknown g.94871720C>T dbSNP SPTLC1_000011 rs7848874 0.47635 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.260+870T>G - - - Unknown g.94870152A>C dbSNP SPTLC1_000010 rs1970121 0.76858 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.427+318G>A - - - Unknown g.94841980C>T dbSNP SPTLC1_000009 rs10820938 0.10811 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.428-1663T>C - - - Unknown g.94832043A>G dbSNP SPTLC1_000008 rs10992221 0.81419 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.428-594G>A - - - Unknown g.94830974C>T dbSNP SPTLC1_000007 rs10820936 0.74662 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.560+594T>C - - - Unknown g.94829654A>G dbSNP SPTLC1_000006 rs12235310 0.96115 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.561-950T>C - - - Unknown g.94822540A>G dbSNP SPTLC1_000005 rs7872515 0.79223 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.561-271G>A - - - Unknown g.94821861C>T dbSNP SPTLC1_000004 rs12237598 0.96284 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.690+204G>A - - - Unknown g.94821257C>T dbSNP SPTLC1_000003 rs7857759 0.80068 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.690+1015G>A - - - Unknown g.94820446C>T dbSNP SPTLC1_000002 rs1892268 0.52872 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1136+783T>C - - - Unknown g.94807498A>G dbSNP SPTLC1_000001 rs7854213 0.91047 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1255-84G>A - r.(=) p.(=) Unknown g.94797249C>T dbSNP SPTLC1_000015 rs10992207 0.00338 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1255-7T>C - - - Unknown g.94797172A>G dbSNP SPTLC1_000014 rs7863487 0.99324 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.*445T>C - - - Unknown g.94794302A>G dbSNP SPTLC1_000013 rs7944 0.08108 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
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