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H-Invitational ID: HIT000053961 Accession number: BC053657 Created date: 26-Mar-2013 Last modified: 27-May-2015 Definition: CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase; EC=2.4.99.-; Alpha-2,8-sialyltransferase 8D; Polysialyltransferase-1; Sialyltransferase 8D; SIAT8-D; Sialyltransferase St8Sia IV; ST8SiaIV;

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Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information

Single Nucleotide Polymorphism (SNP) and indel  Location Variation dbSNP ID Strand CDS/UTR Translation 51 .. 51 G/A rs200194686 + 5'UTR 170 .. 170 T/C rs1428439 - 5'UTR 178 .. 178 T/A rs77888994 - 5'UTR 194 .. 194 C/T rs144473066 - 5'UTR 248 .. 248 G/T rs28617677 - 5'UTR 331 .. 331 G/A rs199768560 - CDS Nonsynonymous[Arg7Lys] 481 .. 481 G/A rs148751339 - CDS Nonsynonymous[Arg57Gln] 486 .. 486 G/A rs140658602 - CDS Nonsynonymous[Ala59Thr] 506 .. 506 G/A rs144123874 - CDS Synonymous[Gln65Gln] 571 .. 571 G/A rs149573011 - CDS Nonsynonymous[Arg87His] 603 .. 603 G/A rs199572556 - CDS Nonsynonymous[Val98Ile] 657 .. 657 C/T rs138152532 - CDS Nonsynonymous[Arg116Trp] 658 .. 658 G/A rs150785295 - CDS Nonsynonymous[Arg116Gln] 662 .. 662 A/T rs111610860 - CDS Synonymous[Thr117Thr] 786 .. 786 G/A rs200594223 - CDS Nonsynonymous[Glu159Lys] 803 .. 803 T/C rs138641468 - CDS Synonymous[Asn164Asn] 878 .. 878 C/T rs201525407 - CDS Synonymous[Thr189Thr] 912 .. 912 G/A rs144812419 - CDS Nonsynonymous[Gly201Ser] 913 .. 913 G/A rs184109088 - CDS Nonsynonymous[Gly201Asp] 914 .. 914 C/T rs191662668 - CDS Synonymous[Gly201Gly] 968 .. 968 T/C rs140878740 - CDS Synonymous[Asn219Asn] 1109 .. 1109 T/C rs148019074 - CDS Synonymous[Gly266Gly] 1145 .. 1145 C/T rs143503881 - CDS Synonymous[Pro278Pro] 1190 .. 1190 T/A rs148811953 - CDS Nonsynonymous[Asp293Glu] 1200 .. 1200 C/T rs145473445 - CDS Synonymous[Leu297Leu] 1244 .. 1244 G/A rs147105549 - CDS Synonymous[Ala311Ala] 1327 .. 1327 C/T rs141895424 - CDS Nonsynonymous[Thr339Ile] 1341 .. 1341 C/A rs200429642 - CDS Nonsynonymous[His344Asn] 1362 .. 1362 C/A rs181265141 - CDS Nonsynonymous[Leu351Met] 1372 .. 1372 G/A rs147924375 - CDS Nonsynonymous[Gly354Glu] 1531 .. 1531 A/G rs113309201 - 3'UTR 1544 .. 1544 G/A rs3076 - 3'UTR 1558 .. 1558 G/A rs141593443 - 3'UTR 1639 .. 1639 C/A rs139860572 - 3'UTR 1678 .. 1678 G/A rs189920171 - 3'UTR 1733 .. 1733 T/C rs10075853 - 3'UTR 1820 .. 1820 A/G rs150522303 - 3'UTR 1917 ^ 1918 -/T rs3842024 - 3'UTR 1920 .. 1920 G/T rs77924520 - 3'UTR 1920 ^ 1921 -/T rs5869926 - 3'UTR 1922 .. 1922 C/T rs200066566 - 3'UTR 1999 .. 1999 C/T rs185904021 - 3'UTR 2020 .. 2020 G/A rs80313395 - 3'UTR 2026 .. 2026 A/G rs6864891 - 3'UTR 2070 .. 2070 T/G rs201098848 - 3'UTR 2071 .. 2071 G/T rs150564207 - 3'UTR 2177 .. 2177 T/G rs11748306 - 3'UTR 2190 .. 2190 G/C rs181783701 - 3'UTR 2211 .. 2211 A/G rs143586479 - 3'UTR 2267 .. 2267 A/G rs190562478 - 3'UTR 2496 .. 2496 A/C rs2544919 + 3'UTR 2586 .. 2586 A/C rs79061882 - 3'UTR 2637 .. 2637 A/G rs187274363 - 3'UTR 2673 .. 2673 T/G rs181006190 - 3'UTR 2734 .. 2734 T/C rs189551449 - 3'UTR 2836 .. 2836 T/A rs142817493 - 3'UTR 2924 .. 2924 T/C rs73163637 - 3'UTR 3021 .. 3021 A/G rs191824121 - 3'UTR 3038 .. 3038 T/A rs138781620 - 3'UTR 3039 .. 3039 T/G rs112066813 - 3'UTR 3087 .. 3087 A/T rs77788876 - 3'UTR 3164 .. 3164 T/G rs2725124 + 3'UTR 3180 .. 3180 A/T rs188642219 - 3'UTR 3196 .. 3196 G/T rs147065508 - 3'UTR 3221 .. 3221 G/C rs184715869 - 3'UTR 3259 .. 3259 A/G rs202195846 + 3'UTR 3260 ^ 3261 -/GTGT rs200238711 - 3'UTR 3260 ^ 3261 -/GTGT/GTGTA rs56881158 - 3'UTR 3274 ^ 3275 -/TGTG rs71964891 - 3'UTR 3275 ^ 3276 -/GTGT rs67471601 - 3'UTR 3277 ^ 3278 -/GTGT rs72115355 - 3'UTR 3340 .. 3340 A/G rs193067470 - 3'UTR 3355 .. 3355 A/C rs188919274 - 3'UTR 3427 .. 3427 C/T rs141692307 - 3'UTR 3557 .. 3557 G/T rs11584 - 3'UTR 3579 .. 3579 A/G rs145748636 - 3'UTR  Microsatellite (Short Tandem Repeat, STR) No data available  Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD) No data available

Repeat  Type Start End Strand AluY 2055 2343 - L1MEd 3554 3680 + Database links Human-Gene diversity Of Life-style related Diseases(H-GOLD);  Related H-InvDB links VaryGene;  Repeat Mask Viewer;