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H-Invitational ID: HIT000490696 Accession number: AK296072 Created date: 26-Mar-2013 Last modified: 27-May-2015 Definition: Similar to Charged multivesicular body protein 2b isoform 2.

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Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information

Single Nucleotide Polymorphism (SNP) and indel  Location Variation dbSNP ID Strand CDS/UTR Translation 102 .. 102 C/A rs77328592 + 5'UTR 151 .. 151 C/T rs36098294 + 5'UTR 158 .. 158 C/A rs11540917 + 5'UTR 218 .. 218 G/C rs11540914 + 5'UTR 219 .. 219 G/A rs199854996 + 5'UTR 240 .. 240 G/A rs200140890 + 5'UTR 279 .. 279 C/T rs2279720 - 5'UTR 287 .. 287 G/T rs11540915 + CDS AA-STOP[Glu2*] 323 .. 323 A/C rs188471297 + CDS Nonsynonymous[Lys14Gln] 336 .. 336 A/G rs143800051 + CDS Nonsynonymous[Lys18Arg] 352 .. 352 A/G rs148750997 + CDS Synonymous[Gln23Gln] 366 .. 366 G/A rs200792883 + CDS Nonsynonymous[Arg28Gln] 373 .. 373 G/C rs139126268 + CDS Nonsynonymous[Gln30His] 375 .. 375 A/G rs144152485 + CDS Nonsynonymous[Lys31Arg] 378 .. 378 C/T rs192188850 + CDS Nonsynonymous[Thr32Met] 412 .. 412 T/C rs144624883 + CDS Synonymous[Ser43Ser] 471 .. 471 C/A rs281864934 + CDS Nonsynonymous[Thr63Asn] 472 .. 472 C/T rs11540913 + CDS Synonymous[Thr63Thr] 524 .. 524 T/C rs189313287 + CDS Synonymous[Leu81Leu] 532 .. 532 A/C rs1044499 + CDS Synonymous[Thr83Thr] 583 .. 583 G/A rs202143621 + CDS Nonsynonymous[Met100Ile] 588 .. 588 A/G rs63750944 + CDS Nonsynonymous[Asn102Ser] 602 .. 602 G/T rs63750653 + CDS Nonsynonymous[Asp107Tyr] 653 .. 653 C/T rs63750355 + CDS AA-STOP[Gln124*] 682 .. 682 T/C rs35414442 + CDS Synonymous[Ile133Ile] 699 .. 699 A/C rs454175 - CDS Nonsynonymous[Lys139Thr] 709 .. 709 A/G rs143178463 + CDS Synonymous[Ser142Ser] 716 .. 716 C/T rs63751048 + CDS AA-STOP[Arg145*] 720 .. 720 G/A rs78268395 + CDS Nonsynonymous[Ser146Asn] 727 .. 727 A/G rs187158507 + CDS Synonymous[Pro148Pro] 741 .. 741 C/T rs149380040 + CDS Nonsynonymous[Ser153Leu] 752 .. 752 A/C rs452942 - CDS Nonsynonymous[Ile157Leu] 778 .. 778 A/C rs63751126 + CDS Nonsynonymous[Gln165His] 857 .. 857 A/C rs407321 + 3'UTR 876 .. 876 C/A rs202169483 + 3'UTR  Microsatellite (Short Tandem Repeat, STR) No data available  Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD) No data available

Repeat  No data available Database links Human-Gene diversity Of Life-style related Diseases(H-GOLD);  Related H-InvDB links VaryGene;  Repeat Mask Viewer;