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H-Invitational ID: HIT000422812 Accession number: AK290015 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: R3H domain-containing protein 1;
 
 

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
303 .. 303 G/A rs200716680 + 5'UTR
344 .. 344 G/A rs139319429 + CDS Nonsynonymous[Val9Ile]
396 .. 396 C/G rs77660903 + CDS Nonsynonymous[Thr26Arg]
406 .. 406 T/G rs140996570 + CDS Synonymous[Val29Val]
417 .. 417 T/C rs115636787 + CDS Nonsynonymous[Ile33Thr]
606 .. 606 T/G rs143470699 + CDS Nonsynonymous[Ile96Arg]
608 .. 608 T/C rs201680913 + CDS Nonsynonymous[Ser97Pro]
664 .. 664 A/C rs150951840 + CDS Nonsynonymous[Glu115Asp]
695 .. 695 G/A rs143615820 + CDS Nonsynonymous[Glu126Lys]
747 .. 747 A/C rs201209663 + CDS Nonsynonymous[Gln143Pro]
885 .. 885 G/A rs144742726 + CDS Nonsynonymous[Arg189His]
1127 .. 1127 A/G rs961360 - CDS Nonsynonymous[Met270Val]
1238 .. 1238 G/A rs202129033 + CDS Nonsynonymous[Glu307Lys]
1247 .. 1247 A/C rs34088964 - CDS Nonsynonymous[Ile310Leu]
1268 .. 1268 G/A rs139991249 + CDS Nonsynonymous[Asp317Asn]
1299 .. 1299 G/A rs202036518 + CDS Nonsynonymous[Arg327His]
1362 .. 1362 C/G rs114219457 + CDS Nonsynonymous[Thr348Ser]
1449 .. 1449 C/T rs182409818 + CDS Nonsynonymous[Thr377Ile]
1586 .. 1586 C/T rs199860629 + CDS Nonsynonymous[His423Tyr]
1709 .. 1709 G/A rs140932904 + CDS Nonsynonymous[Ala464Thr]
1749 .. 1749 C/G rs147536237 + CDS Nonsynonymous[Ala477Gly]
1750 .. 1750 G/A rs149874194 + CDS Synonymous[Ala477Ala]
1753 .. 1753 A/C rs144901752 + CDS Synonymous[Ala478Ala]
1754 .. 1754 G/C rs143277081 + CDS Nonsynonymous[Gly479Arg]
1788 .. 1788 A/G rs116803765 + CDS Nonsynonymous[Gln490Arg]
1791 .. 1791 C/T rs140890871 + CDS Nonsynonymous[Thr491Ile]
1848 .. 1848 C/T rs150394823 + CDS Nonsynonymous[Thr510Ile]
1906 .. 1906 A/T rs13425947 + CDS Synonymous[Pro529Pro]
1960 .. 1960 T/C rs139193845 + CDS Synonymous[Ser547Ser]
2020 .. 2020 C/T rs147519491 + CDS Synonymous[Ala567Ala]
2064 .. 2064 C/G rs201789029 + CDS Nonsynonymous[Ser582Cys]
2087 .. 2087 C/A rs112729561 + CDS Nonsynonymous[Pro590Thr]
2089 .. 2089 T/C rs201061461 + CDS Synonymous[Pro590Pro]
2097 .. 2097 A/G rs150498555 + CDS Nonsynonymous[His593Arg]
2101 .. 2101 T/C rs200431099 + CDS Synonymous[Pro594Pro]
2124 .. 2124 C/T rs139457585 + CDS Nonsynonymous[Pro602Leu]
2134 .. 2134 T/C rs111235534 + CDS Synonymous[Pro605Pro]
2185 .. 2185 T/A rs202173447 + CDS Synonymous[Gly622Gly]
2217 .. 2217 A/C rs2305165 - CDS Nonsynonymous[Gln633Pro]
2264 .. 2264 G/A rs144077610 + CDS Nonsynonymous[Ala649Thr]
2274 .. 2274 A/G rs139502420 + CDS Nonsynonymous[His652Arg]
2300 .. 2300 C/T rs114677169 + CDS Nonsynonymous[Arg661Cys]
2304 .. 2304 C/T rs151233134 + CDS Nonsynonymous[Pro662Leu]
2358 .. 2358 C/T rs199515262 + CDS Nonsynonymous[Ala680Val]
2359 .. 2359 G/A rs139125340 + CDS Synonymous[Ala680Ala]
2415 .. 2415 T/G rs201906607 + CDS Nonsynonymous[Val699Gly]
2440 .. 2440 G/C rs143127486 + CDS Nonsynonymous[Gln707His]
2446 .. 2446 A/G rs149624809 + CDS Synonymous[Leu709Leu]
2539 .. 2539 A/G rs144388261 + CDS Synonymous[Gln740Gln]
2615 .. 2615 C/A rs76298784 + CDS Nonsynonymous[Pro766Thr]
2680 .. 2680 T/C rs199864603 + CDS Synonymous[Ser787Ser]
2733 .. 2733 C/T rs200294484 + CDS Nonsynonymous[Thr805Ile]
2766 .. 2766 G/A rs199587789 + CDS Nonsynonymous[Gly816Asp]
2780 .. 2780 G/A rs144042865 + CDS Nonsynonymous[Ala821Thr]
2789 .. 2789 C/A rs139565775 + CDS Nonsynonymous[Pro824Thr]
2868 .. 2868 C/T rs145608320 + CDS Nonsynonymous[Pro850Leu]
2869 .. 2869 G/A rs147882808 + CDS Synonymous[Pro850Pro]
2900 .. 2900 C/T rs143703596 + CDS Nonsynonymous[His861Tyr]
2905 .. 2905 G/A rs200624357 + CDS Synonymous[Gln862Gln]
2943 .. 2943 A/G rs148125749 + CDS Nonsynonymous[Asn875Ser]
2974 .. 2974 C/G rs115242070 + CDS Nonsynonymous[Ser885Arg]
2987 .. 2987 C/T rs201494950 + CDS Nonsynonymous[Pro890Ser]
3092 .. 3092 G/A rs116821936 + CDS Nonsynonymous[Gly925Arg]
3142 .. 3142 T/C rs199595729 + CDS Synonymous[Asn941Asn]
3160 .. 3160 C/T rs35003255 - CDS Synonymous[His947His]
3255 .. 3255 C/T rs115519111 + CDS Nonsynonymous[Ala979Val]
3276 .. 3276 A/T rs199512616 + CDS Nonsynonymous[Lys986Met]
3301 .. 3301 A/G rs113498203 + CDS Synonymous[Pro994Pro]
3402 .. 3402 G/A rs143951307 + CDS Nonsynonymous[Arg1028His]
3405 .. 3405 A/G rs148646134 + CDS Nonsynonymous[His1029Arg]
3424 .. 3424 T/G rs200059770 + CDS Nonsynonymous[Ser1035Arg]
3429 .. 3429 A/G rs72844194 + CDS Nonsynonymous[Asp1037Gly]
3443 .. 3443 C/A rs116105123 + CDS Nonsynonymous[Pro1042Thr]
3450 .. 3450 G/A rs114639828 + CDS Nonsynonymous[Arg1044His]
3541 .. 3541 T/G rs147866381 + CDS Nonsynonymous[Ile1074Met]
3545 .. 3545 T/G rs190617868 + CDS Nonsynonymous[Leu1076Val]
3579 .. 3579 A/G rs141539490 + CDS Nonsynonymous[Lys1087Arg]
3580 .. 3580 G/A rs145238803 + CDS Synonymous[Lys1087Lys]
3621 .. 3621 A/G rs116499913 + CDS Synonymous_atSTOP[*1101*]
3639 .. 3639 C/T rs182869080 + 3'UTR
3640 .. 3640 T/A rs78511053 + 3'UTR
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
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 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