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H-Invitational ID: HIT000031230 Accession number: BC002839 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase; EC=2.4.1.258; Asparagine-linked glycosylation protein 3 homolog; Dol-P-Man-dependent alpha(1-3)-mannosyltransferase; Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase; Dolichyl-phosphate-mannose--glycolipid alpha-mannosyltransferase; Not56-like protein;
 
 

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information  VaryGene Repeat mask viewer
 Single Nucleotide Polymorphism (SNP) and indel  VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
22 .. 22 C/A rs199587005 - CDS Synonymous[Arg6Arg]
217 .. 217 T/C rs119103237 + CDS Nonsynonymous[Trp71Arg]
226 .. 226 T/C rs11550774 + CDS Nonsynonymous[Tyr74His]
228 .. 228 C/T rs200875721 - CDS Synonymous[Tyr74Tyr]
254 .. 254 A/G rs199565095 - CDS Nonsynonymous[Asn83Ser]
300 .. 300 T/A rs200538695 - CDS Synonymous[Leu98Leu]
325 .. 325 A/G rs2233463 + CDS Nonsynonymous[Ile107Val]
359 .. 359 G/A rs28940588 + CDS Nonsynonymous[Gly118Asp]
382 .. 382 A/T rs140738312 - CDS Nonsynonymous[Asn126Tyr]
396 .. 396 G/A rs11550775 + CDS Synonymous[Val130Val]
421 .. 421 G/A rs188264452 - CDS Nonsynonymous[Val139Ile]
463 .. 463 G/A rs200285629 - CDS Nonsynonymous[Val153Ile]
476 .. 476 T/A rs119103238 + CDS Nonsynonymous[Met157Lys]
483 .. 483 C/T rs201087932 - CDS Synonymous[Cys159Cys]
518 .. 518 G/A rs119103236 + CDS Nonsynonymous[Arg171Gln]
545 .. 545 T/G rs75446351 - CDS Nonsynonymous[Val180Gly]
566 .. 566 A/G rs201162134 - CDS Nonsynonymous[Asn187Ser]
597 .. 597 T/C rs2233464 + CDS Synonymous[Gly197Gly]
605 .. 605 T/C rs111918145 - CDS Nonsynonymous[Phe200Ser]
675 .. 675 C/T rs146607327 - CDS Synonymous[Leu223Leu]
783 .. 783 C/T rs142901178 - CDS Synonymous[Ser259Ser]
811 .. 811 C/T rs57468851 - CDS Synonymous[Leu269Leu]
840 .. 840 C/A rs199950746 - CDS Nonsynonymous[Phe278Leu]
851 .. 851 C/T rs2233466 + CDS Nonsynonymous[Ala282Val]
901 .. 901 A/C rs1687219 + CDS Nonsynonymous[Thr299Pro]
928 .. 928 A/G rs145745729 - CDS Nonsynonymous[Arg308Gly]
929 .. 929 G/T rs201049121 - CDS Nonsynonymous[Arg308Met]
951 .. 951 T/C rs2233468 + CDS Synonymous[Ser315Ser]
971 .. 971 A/T rs201776371 - CDS Nonsynonymous[Asp322Val]
977 .. 977 C/G rs2233469 + CDS Nonsynonymous[Ser324Cys]
1086 .. 1086 C/A rs80237396 - CDS Nonsynonymous[Phe360Leu]
1090 .. 1090 G/A rs186946267 - CDS Nonsynonymous[Val362Ile]
1143 .. 1143 G/T rs145300083 - CDS Nonsynonymous[Trp379Cys]
1221 .. 1221 C/T rs116621135 - CDS Synonymous[Ser405Ser]
1277 .. 1277 C/T rs79144888 - CDS Nonsynonymous[Pro424Leu]
1373 .. 1373 T/G rs706584 - 3'UTR
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
Mini-G

 Repeat  Repeat mask viewer
No data available
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene Repeat mask viewerRepeat Mask Viewer