H-InvDB x AHG DB
Transcript view
H-InvDB_9.0 released on May 27, 2015.
Search by for Advanced Search
Home Quick guide Navi BLAST Site map Download Contact us Help
H-Invitational ID: HIT000000192 Accession number: AB007944 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Glycosaminoglycan xylosylkinase; EC=2.7.1.-; Protein FAM20B; Xylose kinase;
 
 

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
301 .. 301 C/G rs72707294 + 5'UTR
316 .. 316 G/A rs111851052 + 5'UTR
412 .. 412 G/A rs137869702 + CDS Nonsynonymous[Asp26Asn]
440 .. 440 G/A rs146067221 + CDS Nonsynonymous[Arg35Gln]
455 .. 455 C/A rs200886195 + CDS Nonsynonymous[Ala40Asp]
464 .. 464 G/A rs142026121 + CDS Nonsynonymous[Arg43Gln]
558 .. 558 G/A rs11802142 + CDS Synonymous[Arg74Arg]
577 .. 577 A/G rs141876206 + CDS Nonsynonymous[Thr81Ala]
637 .. 637 G/A rs146097391 + CDS Nonsynonymous[Val101Met]
675 .. 675 A/G rs200608685 + CDS Nonsynonymous[Ile113Met]
727 .. 727 C/G rs146393427 + CDS Nonsynonymous[His131Asp]
746 .. 746 C/T rs150031972 + CDS Nonsynonymous[Pro137Leu]
747 .. 747 G/A rs61731084 + CDS Synonymous[Pro137Pro]
760 .. 760 G/T rs202188103 + CDS Nonsynonymous[Asp142Tyr]
849 .. 849 T/C rs145367987 + CDS Synonymous[Asn171Asn]
853 .. 853 C/T rs201200050 + CDS Nonsynonymous[Arg173Trp]
897 .. 897 C/T rs200538395 + CDS Synonymous[Thr187Thr]
900 .. 900 C/G rs199594990 + CDS Nonsynonymous[Phe188Leu]
975 .. 975 T/G rs115005196 + CDS Nonsynonymous[Asp213Glu]
985 .. 985 A/T rs142541786 + CDS Nonsynonymous[Met217Leu]
996 .. 996 T/C rs137932051 + CDS Synonymous[Ser220Ser]
1075 .. 1075 T/C rs145807542 + CDS Synonymous[Leu247Leu]
1114 .. 1114 G/A rs201538828 + CDS Nonsynonymous[Val260Met]
1144 .. 1144 C/T rs140406781 + CDS Nonsynonymous[Pro270Ser]
1146 .. 1146 G/A rs150381478 + CDS Synonymous[Pro270Pro]
1149 .. 1149 C/A rs143013339 + CDS Synonymous[Arg271Arg]
1214 .. 1214 A/G rs200686180 + CDS Nonsynonymous[Tyr293Cys]
1241 .. 1241 C/T rs138594430 + CDS Nonsynonymous[Ala302Val]
1242 .. 1242 T/A rs149513260 + CDS Synonymous[Ala302Ala]
1265 .. 1265 A/G rs199656793 + CDS Nonsynonymous[Asn310Ser]
1343 .. 1343 T/C rs141949932 + CDS Nonsynonymous[Val336Ala]
1369 .. 1369 C/G rs201637462 + CDS Nonsynonymous[Leu345Val]
1388 .. 1388 A/T rs201521365 + CDS Nonsynonymous[Lys351Met]
1393 .. 1393 G/A rs200936773 + CDS Nonsynonymous[Ala353Thr]
1415 .. 1415 A/G rs146312839 + CDS Nonsynonymous[His360Arg]
1424 .. 1424 T/C rs112282462 + CDS Nonsynonymous[Ile363Thr]
1427 .. 1427 C/G/T rs144871480 + CDS
1455 .. 1455 C/T rs202186782 + CDS Synonymous[Asp373Asp]
1458 .. 1458 C/T rs146459916 + CDS Synonymous[Ala374Ala]
1459 .. 1459 G/A rs200757870 + CDS Nonsynonymous[Val375Met]
1467 .. 1467 G/A rs144178097 + CDS Synonymous[Gln377Gln]
1597 .. 1597 T/C rs73045635 + 3'UTR
1678 .. 1678 A/G rs4456058 + 3'UTR
1685 .. 1685 G/A rs2025584 - 3'UTR
1939 .. 1939 C/T rs140751029 + 3'UTR
1940 .. 1940 G/A rs150142585 + 3'UTR
1995 .. 1995 G/C rs138582417 + 3'UTR
2038 .. 2038 C/T rs185893563 + 3'UTR
2140 .. 2140 T/C rs112020970 + 3'UTR
2219 .. 2219 C/T rs149335876 + 3'UTR
2227 ^ 2228 -/G rs34534731 + 3'UTR
2256 .. 2256 G/T rs9726948 + 3'UTR
2376 .. 2376 A/C rs116234027 + 3'UTR
2378 .. 2378 A/G rs16853612 + 3'UTR
2513 .. 2513 C/T rs9725887 + 3'UTR
2556 .. 2556 T/C rs9725888 + 3'UTR
2586 .. 2586 A/C rs4652352 + 3'UTR
2587 .. 2587 G/A rs147003645 + 3'UTR
2602 .. 2602 C/T rs72709441 + 3'UTR
2624 ^ 2625 -/C rs35222556 + 3'UTR
2731 .. 2731 T/G rs138326350 + 3'UTR
2736 .. 2736 G/T rs4652353 + 3'UTR
2746 .. 2746 T/C rs34488634 + 3'UTR
2810 .. 2810 C/T rs4652354 + 3'UTR
2933 .. 2933 C/G rs182478617 + 3'UTR
3034 .. 3034 G/A rs147233588 + 3'UTR
3198 .. 3198 T/G rs79542318 + 3'UTR
3248 .. 3248 T/C rs187113980 + 3'UTR
3260 .. 3260 G/A rs190192155 + 3'UTR
3267 .. 3267 G/C rs56006430 + 3'UTR
3297 .. 3297 C/A rs9730439 + 3'UTR
3304 .. 3304 G/C rs183545778 + 3'UTR
3310 .. 3310 C/T rs188422347 + 3'UTR
3337 .. 3337 G/A rs193209299 + 3'UTR
3411 .. 3411 C/T rs184090991 + 3'UTR
3466 .. 3466 C/T rs186748930 + 3'UTR
3618 ^ 3619 -/A rs149724701 + 3'UTR
3715 .. 3715 A/G rs148746740 + 3'UTR
3775 .. 3775 C/G rs141464805 + 3'UTR
3825 .. 3825 G/T/C/A rs3766626 - 3'UTR
3833 ^ 3834 -/C rs35980145 + 3'UTR
3839 .. 3839 G/A rs3766625 - 3'UTR
4072 .. 4072 G/A rs191552974 + 3'UTR
4188 ^ 4189 -/AA rs137901836 + 3'UTR
4225 .. 4225 G/A rs16853619 + 3'UTR
4334 .. 4334 G/A rs150890739 + 3'UTR
4469 ^ 4470 -/G rs35292643 + 3'UTR
4486 .. 4486 G/C rs116023119 + 3'UTR
4588 .. 4588 G/A rs2018786 + 3'UTR
4667 .. 4667 T/G rs146640188 + 3'UTR
4741 .. 4741 A/G rs184073437 + 3'UTR
4858 .. 4858 C/T rs78609757 + 3'UTR
4985 .. 4985 C/T rs115052587 + 3'UTR
4991 .. 4991 A/G rs76363748 + 3'UTR
5009 .. 5009 A/G rs16853621 + 3'UTR
5089 .. 5089 A/T rs80245804 + 3'UTR
5260 .. 5260 G/T rs188554154 + 3'UTR
5291 .. 5291 A/G rs2147768 - 3'UTR
5318 .. 5318 A/T rs192735944 + 3'UTR
5393 .. 5393 T/C rs185117436 + 3'UTR
5453 .. 5453 A/G rs140167281 + 3'UTR
5553 .. 5553 A/G rs143990674 + 3'UTR
5641 .. 5641 G/C rs61823795 + 3'UTR
5643 .. 5643 C/T rs61823796 + 3'UTR
5646 ^ 5647 -/T rs71700716 + 3'UTR
5759 .. 5759 G/A rs9249 + 3'UTR
5768 .. 5768 A/C rs115640057 + 3'UTR
5772 .. 5772 A/G rs117216397 + 3'UTR
5779 .. 5779 A/C rs116166770 + 3'UTR
5786 .. 5786 C/A rs1220 + 3'UTR
5834 .. 5834 G/T rs11540488 - 3'UTR
5838 .. 5838 T/A rs15325 + 3'UTR
5890 .. 5890 A/G rs189995198 + 3'UTR
5911 .. 5911 T/A rs149069844 + 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
Type Start End Strand
AluSx1 2727 3043 -
AluSx 4330 4625 +
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene Repeat mask viewerRepeat Mask Viewer