All transcript variants in 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)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Heterozygote     

Homozygous     

Owner     
./. - c.132+1323T>G r.(=) p.(=) g.77615125A>C - SPTLC2_000035 rs17752117 0.9441 28 306 Admin
./. - c.132+4586T>C - - g.77611862A>G - SPTLC2_000034 rs176901 0.5309 168 96 Admin
./. - c.133-5128T>G - - g.77602508A>C - SPTLC2_000033 rs17751993 0.8809 76 261 Admin
./. - c.133-3577T>A r.(=) p.(=) g.77600957A>T - SPTLC2_000032 rs10873309 0.6118 168 123 Admin
./. - c.133-3431T>C - - g.77600811A>G - SPTLC2_000031 rs17824984 0.1279 78 4 Admin
./. - c.133-2937T>C r.(=) p.(=) g.77600317A>G - SPTLC2_000030 rs2299927 0.7235 124 183 Admin
./. - c.133-2661G>A - - g.77600041C>T - SPTLC2_000029 rs2299926 0.1132 63 7 Admin
./. - c.133-2085G>C r.(=) p.(=) g.77599465C>G - SPTLC2_000028 rs2299924 0.5985 167 119 Admin
./. - c.133-1815T>A r.(=) p.(=) g.77599195A>T - SPTLC2_000027 rs7143656 0.1059 61 5 Admin
./. - c.133-1676T>C - - g.77599056A>G - SPTLC2_000025 rs2299922 0.4794 179 73 Admin
./. - c.133-1255G>A - - g.77598635C>T - SPTLC2_000024 rs2299921 0.6147 168 124 Admin
./. - c.327+2521T>C - - g.77594665A>G - SPTLC2_000023 rs4497612 0.1191 74 3 Admin
./. - c.327+5695T>G - - g.77591491A>C - SPTLC2_000022 rs2142187 0.6809 145 159 Admin
./. - c.327+6325T>C r.(=) p.(=) g.77590861A>G - SPTLC2_000021 rs12884431 0.8368 81 243 Admin
./. - c.327+7877T>C - - g.77589309A>G - SPTLC2_000020 rs17751876 0.8750 75 259 Admin
./. - c.328-5218G>A - - g.77584327C>T - SPTLC2_000019 rs11626728 0.0706 43 2 Admin
./. - c.328-4415T>C - - g.77583524A>G - SPTLC2_000018 rs2299919 0.8559 80 250 Admin
./. - c.328-4281G>A - - g.77583390C>T - SPTLC2_000017 rs10135955 0.4221 167 59 Admin
./. - c.328-3262G>A - - g.77582371C>T - SPTLC2_000016 rs4145508 0.0191 11 1 Admin
./. - c.483-670G>A - - g.77577585C>T - SPTLC2_000015 rs4903612 0.9471 24 309 Admin
./. - c.632-1057G>A r.(=) p.(=) g.77571565C>T - SPTLC2_000014 rs41347855 0.5618 170 105 Admin
./. - c.756+1109G>A - - g.77569275C>T - SPTLC2_000013 rs4903605 0.5603 163 108 Admin
./. - c.756+1336T>A r.(=) p.(=) g.77569048A>T - SPTLC2_000012 rs4899658 0.4485 167 69 Admin
./. - c.757-1646G>C - - g.77564135C>G - SPTLC2_000011 rs2091915 0.9176 38 292 Admin
./. - c.850+338T>G - - g.77562058A>C - SPTLC2_000010 rs11159276 0.5059 174 85 Admin
./. - c.850+362T>C r.(=) p.(=) g.77562034A>G - SPTLC2_000009 rs4903604 0.7691 121 200 Admin
./. - c.851-1436G>A - - g.77558582C>T - SPTLC2_000008 rs6574383 0.2235 120 16 Admin
./. - c.1176+377G>C - - g.77554923C>G - SPTLC2_000007 rs17751727 0.6044 152 129 Admin
./. - c.1303+2169T>C r.(=) p.(=) g.77549927A>G - SPTLC2_000006 rs17751692 0.2735 132 27 Admin
./. - c.1303+2543T>C - - g.77549553A>G - SPTLC2_000005 rs2284230 0.8074 93 227 Admin
./. - c.1303+3594G>A - - g.77548502C>T - SPTLC2_000004 rs10142919 0.9397 23 307 Admin
./. - c.1303+6446T>C - - g.77545650A>G - SPTLC2_000003 rs17105954 0.8456 95 239 Admin
./. - c.1303+6842T>A - - g.77545254A>T - SPTLC2_000002 rs4899657 0.0662 31 7 Admin
./. - c.1303+11275C>A - - g.77540821G>T - SPTLC2_000001 rs17105930 0.8162 103 225 Admin
./. - c.1303+14244G>A - - g.77537852C>T - SPTLC2_000026 rs7157643 0.9471 26 308 Admin
./. - c.1304-3335T>C r.(=) p.(=) g.77524916A>G - SPTLC2_000039 rs11627851 0.2118 113 15 Admin
./. - c.1304-723G>A - - g.77522304C>T - SPTLC2_000038 rs2299910 0.2632 111 34 Admin
./. - c.*2178C>A r.(=) p.(=) g.77510106G>T - SPTLC2_000037 rs17824567 0.8735 72 260 Admin
./. - c.*2303G>A - - g.77509981C>T - SPTLC2_000036 rs11159269 0.2441 123 21 Admin
./. - c.*2703T>C - - g.77509581A>G - SPTLC2_000043 rs10147023 0.8809 59 269 Admin
./. - c.*3638G>A - - g.77508646C>T - SPTLC2_000042 rs1063271 0.7559 123 195 Admin
./. - c.*5359G>A r.(=) p.(=) g.77506925C>T - SPTLC2_000041 rs8021886 0.9647 12 321 Admin
./. - c.*5532G>A - - g.77506752C>T - SPTLC2_000040 rs17105886 0.9235 36 295 Admin
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