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H-Invitational ID: HIT000422976 Accession number: AK290179 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Similar to Protein enabled homolog isoform a.
 
 

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
161 .. 161 C/T rs149362944 - 5'UTR
251 .. 251 G/C rs116481763 - 5'UTR
316 .. 316 C/T rs11558604 + 5'UTR
449 .. 449 G/A rs201973976 - CDS Nonsynonymous[Asp18Asn]
456 .. 456 A/G rs149009967 - CDS Nonsynonymous[Asn20Ser]
690 .. 690 A/G rs141332414 - CDS Nonsynonymous[Asn98Ser]
715 .. 715 T/C rs146464464 - CDS Synonymous[His106His]
799 .. 799 C/T rs139065275 - CDS Synonymous[Gly134Gly]
826 .. 826 A/G rs148691501 - CDS Synonymous[Gln143Gln]
863 .. 863 C/A rs201023360 - CDS Nonsynonymous[Leu156Met]
870 .. 870 G/A rs143642798 - CDS Nonsynonymous[Arg158Gln]
1030 .. 1030 G/A rs201432124 - CDS Synonymous[Glu211Glu]
1040 .. 1040 C/T rs138096201 - CDS Nonsynonymous[Arg215Cys]
1041 .. 1041 G/A rs149587286 - CDS Nonsynonymous[Arg215His]
1048 .. 1048 G/A rs140432837 - CDS Synonymous[Glu217Glu]
1058 .. 1058 C/T rs148381397 - CDS Nonsynonymous[Arg221Cys]
1066 .. 1066 T/A rs2785204 - CDS Nonsynonymous[Asp223Glu]
1067 .. 1067 C/T rs141364661 - CDS Nonsynonymous[Arg224Trp]
1091 .. 1091 C/G rs200650081 - CDS Nonsynonymous[Arg232Gly]
1114 .. 1114 A/T rs201461224 - CDS Nonsynonymous[Glu239Asp]
1115 .. 1115 C/T rs142024814 - CDS Nonsynonymous[Arg240Trp]
1134 .. 1134 A/G rs199518908 - CDS Nonsynonymous[Glu246Gly]
1156 .. 1156 G/A rs1340868 - CDS Synonymous[Arg253Arg]
1173 .. 1173 A/G rs201871225 - CDS Nonsynonymous[Glu259Gly]
1191 .. 1191 C/T rs150540046 - CDS Nonsynonymous[Ser265Leu]
1227 .. 1227 T/C rs147227325 - CDS Nonsynonymous[Leu277Pro]
1287 .. 1287 C/T rs147401807 - CDS Nonsynonymous[Pro297Leu]
1298 .. 1298 C/G rs143810413 - CDS Nonsynonymous[Pro301Ala]
1325 .. 1325 C/T rs200278281 - CDS Nonsynonymous[Pro310Ser]
1335 .. 1335 C/T rs149359910 - CDS Nonsynonymous[Pro313Leu]
1339 .. 1339 A/C rs145188989 - CDS Synonymous[Pro314Pro]
1454 .. 1454 C/G rs201016572 - CDS Nonsynonymous[Pro353Ala]
1573 .. 1573 T/G rs112734185 - CDS Synonymous[Leu392Leu]
1589 .. 1589 G/A rs143052362 - CDS Nonsynonymous[Gly398Arg]
1590 .. 1590 G/A rs145797306 - CDS Nonsynonymous[Gly398Glu]
1622 .. 1622 G/A rs151173302 - CDS Nonsynonymous[Asp409Asn]
1626 .. 1626 C/A rs149039693 - CDS Nonsynonymous[Thr410Asn]
1653 .. 1653 T/C rs75136619 - CDS Nonsynonymous[Ile419Thr]
1716 .. 1716 G/C rs139773212 - CDS Nonsynonymous[Gly440Ala]
1750 .. 1750 G/C rs147843407 - CDS Synonymous[Leu451Leu]
1782 .. 1782 G/A rs150858944 - CDS Nonsynonymous[Gly462Glu]
1788 .. 1788 C/A rs75986582 - CDS Nonsynonymous[Thr464Lys]
1789 .. 1789 A/G rs141466987 - CDS Synonymous[Thr464Thr]
1800 .. 1800 A/G rs113271908 - CDS Nonsynonymous[Glu468Gly]
1802 .. 1802 C/G rs77211786 - CDS Nonsynonymous[Gln469Glu]
1810 .. 1810 G/A rs146063337 - CDS Synonymous[Glu471Glu]
1871 .. 1871 C/T rs189813142 - CDS Nonsynonymous[Pro492Ser]
1927 .. 1927 T/A rs143799748 - CDS Synonymous[Val510Val]
1929 .. 1929 T/C rs149413176 - CDS Nonsynonymous[Ile511Thr]
1983 .. 1983 C/T rs141150172 - CDS Nonsynonymous[Thr529Met]
2051 .. 2051 C/T rs11556772 + CDS Synonymous[Leu552Leu]
2053 .. 2053 A/C rs144474730 - CDS Synonymous[Leu552Leu]
2070 .. 2070 A/G rs113170551 - CDS Nonsynonymous[Asp558Gly]
2105 .. 2105 G/A rs114476062 - CDS Nonsynonymous[Ala570Thr]
2114 .. 2114 A/G rs17501138 - 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