Full data view for gene SPTLC2

Information The variants shown are described using the NM_004863.3 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
./. - c.132+1322T>G - - - Unknown g.78081469A>C dbSNP SPTLC2_000035 rs17752117 0.95270 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.132+4585T>C - - - Unknown g.78078206A>G dbSNP SPTLC2_000034 rs176901 0.51689 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.133-5129T>G - - - Unknown g.78068852A>C dbSNP SPTLC2_000033 rs17751993 0.88514 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.133-3578T>A - r.(=) p.(=) Unknown g.78067301A>T dbSNP SPTLC2_000032 rs10873309 0.61486 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.133-3432T>C - r.(=) p.(=) Unknown g.78067155A>G dbSNP SPTLC2_000031 rs17824984 0.11824 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.133-2938T>C - - - Unknown g.78066661A>G dbSNP SPTLC2_000030 rs2299927 0.73311 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.133-2662G>A - r.(=) p.(=) Unknown g.78066385C>T dbSNP SPTLC2_000029 rs2299926 0.11993 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.133-2086G>C - r.(=) p.(=) Unknown g.78065809C>G dbSNP SPTLC2_000028 rs2299924 0.60980 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.133-1816T>A - - - Unknown g.78065539A>T dbSNP SPTLC2_000027 rs7143656 0.09628 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.133-1677T>C - - - Unknown g.78065400A>G dbSNP SPTLC2_000025 rs2299922 0.48311 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.133-1256G>A - - - Unknown g.78064979C>T dbSNP SPTLC2_000024 rs2299921 0.61655 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.327+2520T>C - r.(=) p.(=) Unknown g.78061009A>G dbSNP SPTLC2_000023 rs4497612 0.11318 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.327+5694T>G - - - Unknown g.78057835A>C dbSNP SPTLC2_000022 rs2142187 0.69257 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.327+6324T>C - - - Unknown g.78057205A>G dbSNP SPTLC2_000021 rs12884431 0.85135 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.327+7876T>C - - - Unknown g.78055653A>G dbSNP SPTLC2_000020 rs17751876 0.87500 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.328-5219G>A - r.(=) p.(=) Unknown g.78050671C>T dbSNP SPTLC2_000019 rs11626728 0.07770 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.328-4416T>C - - - Unknown g.78049868A>G dbSNP SPTLC2_000018 rs2299919 0.86318 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.328-4282G>A - r.(=) p.(=) Unknown g.78049734C>T dbSNP SPTLC2_000017 rs10135955 0.42736 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.328-3263G>A - - - Unknown g.78048715C>T dbSNP SPTLC2_000016 rs4145508 0.01014 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.483-671G>A - - - Unknown g.78043929C>T dbSNP SPTLC2_000015 rs4903612 0.96622 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.632-1058G>A - r.(=) p.(=) Unknown g.78037909C>T dbSNP SPTLC2_000014 rs41347855 0.56250 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.756+1108G>A - r.(=) p.(=) Unknown g.78035619C>T dbSNP SPTLC2_000013 rs4903605 0.55405 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.756+1335T>A - - - Unknown g.78035392A>T dbSNP SPTLC2_000012 rs4899658 0.44764 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.757-1647G>C - r.(=) p.(=) Unknown g.78030479C>G dbSNP SPTLC2_000011 rs2091915 0.94426 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.850+337T>G - - - Unknown g.78028402A>C dbSNP SPTLC2_000010 rs11159276 0.49493 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.850+361T>C - - - Unknown g.78028378A>G dbSNP SPTLC2_000009 rs4903604 0.76351 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.851-1437G>A - - - Unknown g.78024926C>T dbSNP SPTLC2_000008 rs6574383 0.21791 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1176+376G>C - - - Unknown g.78021267C>G dbSNP SPTLC2_000007 rs17751727 0.59966 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1303+2168T>C - - - Unknown g.78016271A>G dbSNP SPTLC2_000006 rs17751692 0.27365 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1303+2542T>C - - - Unknown g.78015897A>G dbSNP SPTLC2_000005 rs2284230 0.80743 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1303+3593G>A - r.(=) p.(=) Unknown g.78014846C>T dbSNP SPTLC2_000004 rs10142919 0.96284 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1303+6445T>C - - - Unknown g.78011994A>G dbSNP SPTLC2_000003 rs17105954 0.84628 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1303+6841T>A - - - Unknown g.78011598A>T dbSNP SPTLC2_000002 rs4899657 0.03716 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1303+11274C>A - - - Unknown g.78007165G>T dbSNP SPTLC2_000001 rs17105930 0.82770 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1303+14243G>A - r.(=) p.(=) Unknown g.78004196C>T dbSNP SPTLC2_000026 rs7157643 0.96791 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1304-3336T>C - r.(=) p.(=) Unknown g.77991260A>G dbSNP SPTLC2_000039 rs11627851 0.20946 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1304-724G>A - - - Unknown g.77988648C>T dbSNP SPTLC2_000038 rs2299910 0.26351 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.*2177C>A - - - Unknown g.77976450G>T dbSNP SPTLC2_000037 rs17824567 0.87331 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.*2302G>A - - - Unknown g.77976325C>T dbSNP SPTLC2_000036 rs11159269 0.22635 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.*2702T>C - - - Unknown g.77975925A>G dbSNP SPTLC2_000043 rs10147023 0.89358 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.*3637G>A - r.(=) p.(=) Unknown g.77974990C>T dbSNP SPTLC2_000042 rs1063271 0.77365 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.*5358G>A - - - Unknown g.77973269C>T dbSNP SPTLC2_000041 rs8021886 0.98649 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.*5531G>A - - - Unknown g.77973096C>T dbSNP SPTLC2_000040 rs17105886 0.94088 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
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