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H-Invitational ID: HIT000243648 Accession number: AF519769 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Protein enabled homolog;
 
 

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
33 .. 33 C/T rs149362944 - 5'UTR
123 .. 123 G/C rs116481763 - 5'UTR
188 .. 188 C/T rs11558604 + 5'UTR
321 .. 321 G/A rs201973976 - CDS Nonsynonymous[Asp18Asn]
328 .. 328 A/G rs149009967 - CDS Nonsynonymous[Asn20Ser]
562 .. 562 A/G rs141332414 - CDS Nonsynonymous[Asn98Ser]
587 .. 587 T/C rs146464464 - CDS Synonymous[His106His]
671 .. 671 C/T rs139065275 - CDS Synonymous[Gly134Gly]
698 .. 698 A/G rs148691501 - CDS Synonymous[Gln143Gln]
735 .. 735 C/A rs201023360 - CDS Nonsynonymous[Leu156Met]
742 .. 742 G/A rs143642798 - CDS Nonsynonymous[Arg158Gln]
902 .. 902 G/A rs201432124 - CDS Synonymous[Glu211Glu]
912 .. 912 C/T rs138096201 - CDS Nonsynonymous[Arg215Cys]
913 .. 913 G/A rs149587286 - CDS Nonsynonymous[Arg215His]
920 .. 920 G/A rs140432837 - CDS Synonymous[Glu217Glu]
930 .. 930 C/T rs148381397 - CDS Nonsynonymous[Arg221Cys]
938 .. 938 T/A rs2785204 - CDS Nonsynonymous[Asp223Glu]
939 .. 939 C/T rs141364661 - CDS Nonsynonymous[Arg224Trp]
963 .. 963 C/G rs200650081 - CDS Nonsynonymous[Arg232Gly]
986 .. 986 A/T rs201461224 - CDS Nonsynonymous[Glu239Asp]
987 .. 987 C/T rs142024814 - CDS Nonsynonymous[Arg240Trp]
1006 .. 1006 A/G rs199518908 - CDS Nonsynonymous[Glu246Gly]
1028 .. 1028 G/A rs1340868 - CDS Synonymous[Arg253Arg]
1045 .. 1045 A/G rs201871225 - CDS Nonsynonymous[Glu259Gly]
1063 .. 1063 C/T rs150540046 - CDS Nonsynonymous[Ser265Leu]
1099 .. 1099 T/C rs147227325 - CDS Nonsynonymous[Leu277Pro]
1159 .. 1159 C/T rs147401807 - CDS Nonsynonymous[Pro297Leu]
1170 .. 1170 C/G rs143810413 - CDS Nonsynonymous[Pro301Ala]
1197 .. 1197 C/T rs200278281 - CDS Nonsynonymous[Pro310Ser]
1207 .. 1207 C/T rs149359910 - CDS Nonsynonymous[Pro313Leu]
1211 .. 1211 A/C rs145188989 - CDS Synonymous[Pro314Pro]
1326 .. 1326 C/G rs201016572 - CDS Nonsynonymous[Pro353Ala]
1445 .. 1445 T/G rs112734185 - CDS Synonymous[Leu392Leu]
1461 .. 1461 G/A rs143052362 - CDS Nonsynonymous[Gly398Arg]
1462 .. 1462 G/A rs145797306 - CDS Nonsynonymous[Gly398Glu]
1494 .. 1494 G/A rs151173302 - CDS Nonsynonymous[Asp409Asn]
1498 .. 1498 C/A rs149039693 - CDS Nonsynonymous[Thr410Asn]
1525 .. 1525 T/C rs75136619 - CDS Nonsynonymous[Ile419Thr]
1588 .. 1588 G/C rs139773212 - CDS Nonsynonymous[Gly440Ala]
1622 .. 1622 G/C rs147843407 - CDS Synonymous[Leu451Leu]
1654 .. 1654 G/A rs150858944 - CDS Nonsynonymous[Gly462Glu]
1660 .. 1660 C/A rs75986582 - CDS Nonsynonymous[Thr464Lys]
1661 .. 1661 A/G rs141466987 - CDS Synonymous[Thr464Thr]
1672 .. 1672 A/G rs113271908 - CDS Nonsynonymous[Glu468Gly]
1674 .. 1674 C/G rs77211786 - CDS Nonsynonymous[Gln469Glu]
1682 .. 1682 G/A rs146063337 - CDS Synonymous[Glu471Glu]
1743 .. 1743 C/T rs189813142 - CDS Nonsynonymous[Pro492Ser]
1799 .. 1799 T/A rs143799748 - CDS Synonymous[Val510Val]
1801 .. 1801 T/C rs149413176 - CDS Nonsynonymous[Ile511Thr]
1818 .. 1818 C/T rs191248485 - CDS Nonsynonymous[Pro517Ser]
1918 .. 1918 C/T rs141150172 - CDS Nonsynonymous[Thr550Met]
1986 .. 1986 C/T rs11556772 + CDS Synonymous[Leu573Leu]
1988 .. 1988 A/C rs144474730 - CDS Synonymous[Leu573Leu]
2005 .. 2005 A/G rs113170551 - CDS Nonsynonymous[Asp579Gly]
2040 .. 2040 G/A rs114476062 - CDS Nonsynonymous[Ala591Thr]
2049 .. 2049 A/G rs17501138 - 3'UTR
2068 .. 2068 G/T rs184878811 - 3'UTR
2219 .. 2219 T/A rs149348028 - 3'UTR
2267 .. 2267 A/T rs1054019 + 3'UTR
2286 .. 2286 T/C rs192876284 - 3'UTR
2347 .. 2347 G/A rs188405610 - 3'UTR
2531 .. 2531 A/G rs11556773 + 3'UTR
2550 .. 2550 A/G rs74147001 - 3'UTR
2652 .. 2652 A/G rs17560215 - 3'UTR
2702 .. 2702 T/A rs184404375 - 3'UTR
2780 .. 2780 A/G rs150637090 - 3'UTR
2958 .. 2958 C/T rs191886070 - 3'UTR
2980 .. 2980 G/T rs141743089 - 3'UTR
3019 .. 3019 G/A rs115933398 - 3'UTR
3122 .. 3122 A/G rs187787533 - 3'UTR
3159 .. 3159 T/C rs184670333 - 3'UTR
3225 .. 3225 A/G rs138086855 - 3'UTR
3297 ^ 3298 -/TA rs60677427 - 3'UTR
3299 ^ 3300 -/TA rs138532187 - 3'UTR
3729 .. 3729 G/A rs147011147 - 3'UTR
3891 .. 3891 C/T rs1044878 + 3'UTR
4058 .. 4058 T/C rs1062859 + 3'UTR
4062 ^ 4063 -/CAA rs71845502 - 3'UTR
4151 .. 4151 C/T rs10915844 - 3'UTR
4161 .. 4161 A/G rs142851338 - 3'UTR
4216 ^ 4217 -/G rs35840692 - 3'UTR
4232 .. 4232 C/T rs10915843 - 3'UTR
4309 .. 4309 C/T rs10915842 - 3'UTR
4337 .. 4337 T/A rs200251176 + 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