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: HIT000335274 Accession number: BC095481 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
216 .. 216 C/T rs149362944 - 5'UTR
306 .. 306 G/C rs116481763 - 5'UTR
371 .. 371 C/T rs11558604 + 5'UTR
504 .. 504 G/A rs201973976 - CDS Nonsynonymous[Asp18Asn]
511 .. 511 A/G rs149009967 - CDS Nonsynonymous[Asn20Ser]
745 .. 745 A/G rs141332414 - CDS Nonsynonymous[Asn98Ser]
770 .. 770 T/C rs146464464 - CDS Synonymous[His106His]
854 .. 854 C/T rs139065275 - CDS Synonymous[Gly134Gly]
881 .. 881 A/G rs148691501 - CDS Synonymous[Gln143Gln]
918 .. 918 C/A rs201023360 - CDS Nonsynonymous[Leu156Met]
925 .. 925 G/A rs143642798 - CDS Nonsynonymous[Arg158Gln]
1085 .. 1085 G/A rs201432124 - CDS Synonymous[Glu211Glu]
1095 .. 1095 C/T rs138096201 - CDS Nonsynonymous[Arg215Cys]
1096 .. 1096 G/A rs149587286 - CDS Nonsynonymous[Arg215His]
1103 .. 1103 G/A rs140432837 - CDS Synonymous[Glu217Glu]
1113 .. 1113 C/T rs148381397 - CDS Nonsynonymous[Arg221Cys]
1121 .. 1121 T/A rs2785204 - CDS Nonsynonymous[Asp223Glu]
1122 .. 1122 C/T rs141364661 - CDS Nonsynonymous[Arg224Trp]
1146 .. 1146 C/G rs200650081 - CDS Nonsynonymous[Arg232Gly]
1169 .. 1169 A/T rs201461224 - CDS Nonsynonymous[Glu239Asp]
1170 .. 1170 C/T rs142024814 - CDS Nonsynonymous[Arg240Trp]
1189 .. 1189 A/G rs199518908 - CDS Nonsynonymous[Glu246Gly]
1211 .. 1211 A/G rs1340868 - CDS Synonymous[Arg253Arg]
1228 .. 1228 A/G rs201871225 - CDS Nonsynonymous[Glu259Gly]
1246 .. 1246 C/T rs150540046 - CDS Nonsynonymous[Ser265Leu]
1282 .. 1282 T/C rs147227325 - CDS Nonsynonymous[Leu277Pro]
1342 .. 1342 C/T rs147401807 - CDS Nonsynonymous[Pro297Leu]
1353 .. 1353 C/G rs143810413 - CDS Nonsynonymous[Pro301Ala]
1380 .. 1380 C/T rs200278281 - CDS Nonsynonymous[Pro310Ser]
1390 .. 1390 C/T rs149359910 - CDS Nonsynonymous[Pro313Leu]
1394 .. 1394 A/C rs145188989 - CDS Synonymous[Pro314Pro]
1509 .. 1509 C/G rs201016572 - CDS Nonsynonymous[Pro353Ala]
1628 .. 1628 T/G rs112734185 - CDS Synonymous[Leu392Leu]
1644 .. 1644 G/A rs143052362 - CDS Nonsynonymous[Gly398Arg]
1645 .. 1645 G/A rs145797306 - CDS Nonsynonymous[Gly398Glu]
1677 .. 1677 G/A rs151173302 - CDS Nonsynonymous[Asp409Asn]
1681 .. 1681 C/A rs149039693 - CDS Nonsynonymous[Thr410Asn]
1708 .. 1708 T/C rs75136619 - CDS Nonsynonymous[Ile419Thr]
1771 .. 1771 G/C rs139773212 - CDS Nonsynonymous[Gly440Ala]
1805 .. 1805 G/C rs147843407 - CDS Synonymous[Leu451Leu]
1837 .. 1837 G/A rs150858944 - CDS Nonsynonymous[Gly462Glu]
1843 .. 1843 C/A rs75986582 - CDS Nonsynonymous[Thr464Lys]
1844 .. 1844 A/G rs141466987 - CDS Synonymous[Thr464Thr]
1855 .. 1855 A/G rs113271908 - CDS Nonsynonymous[Glu468Gly]
1857 .. 1857 C/G rs77211786 - CDS Nonsynonymous[Gln469Glu]
1865 .. 1865 G/A rs146063337 - CDS Synonymous[Glu471Glu]
1926 .. 1926 C/T rs189813142 - CDS Nonsynonymous[Pro492Ser]
1982 .. 1982 T/A rs143799748 - CDS Synonymous[Val510Val]
1984 .. 1984 T/C rs149413176 - CDS Nonsynonymous[Ile511Thr]
2001 .. 2001 C/T rs191248485 - CDS Nonsynonymous[Pro517Ser]
2101 .. 2101 C/T rs141150172 - CDS Nonsynonymous[Thr550Met]
2169 .. 2169 C/T rs11556772 + CDS Synonymous[Leu573Leu]
2171 .. 2171 A/C rs144474730 - CDS Synonymous[Leu573Leu]
2188 .. 2188 A/G rs113170551 - CDS Nonsynonymous[Asp579Gly]
2223 .. 2223 G/A rs114476062 - CDS Nonsynonymous[Ala591Thr]
2232 .. 2232 G/A rs17501138 - 3'UTR
2251 .. 2251 G/T rs184878811 - 3'UTR
2402 .. 2402 T/A rs149348028 - 3'UTR
2450 .. 2450 A/T rs1054019 + 3'UTR
2469 .. 2469 T/C rs192876284 - 3'UTR
2530 .. 2530 G/A rs188405610 - 3'UTR
2714 .. 2714 A/G rs11556773 + 3'UTR
2733 .. 2733 A/G rs74147001 - 3'UTR
2835 .. 2835 G/A rs17560215 - 3'UTR
2885 .. 2885 T/A rs184404375 - 3'UTR
2963 .. 2963 A/G rs150637090 - 3'UTR
3143 .. 3143 C/T rs191886070 - 3'UTR
3165 .. 3165 G/T rs141743089 - 3'UTR
3204 .. 3204 G/A rs115933398 - 3'UTR
3307 .. 3307 A/G rs187787533 - 3'UTR
3344 .. 3344 T/C rs184670333 - 3'UTR
3410 .. 3410 A/G rs138086855 - 3'UTR
3482 ^ 3483 -/TA rs60677427 - 3'UTR
3484 ^ 3485 -/TA rs138532187 - 3'UTR
3914 .. 3914 G/A rs147011147 - 3'UTR
4076 .. 4076 C/T rs1044878 + 3'UTR
4243 .. 4243 T/C rs1062859 + 3'UTR
4247 ^ 4248 -/CAA rs71845502 - 3'UTR
4336 .. 4336 C/T rs10915844 - 3'UTR
4346 .. 4346 A/G rs142851338 - 3'UTR
4401 ^ 4402 -/G rs35840692 - 3'UTR
4417 .. 4417 C/T rs10915843 - 3'UTR
4494 .. 4494 C/T rs10915842 - 3'UTR
4522 .. 4522 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
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