Product Details

Primer Sequences
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Primer Chromosome Location
Chr.5: 78002849-78003110 on Build GRCh38
Format
Each primer will be delivered in a single tube, dried-down
Quick Reference Guide
Primer Designer™ Tool Quick Reference
Ampliseq ID's

Gene Details

Gene Symbol
AP3B1
Entrez Gene ID
8546
Gene Name
adaptor related protein complex 3 beta 1 subunit
Gene Aliases
ADTB3, ADTB3A, HPS, HPS2, PE
UniGene
Hs.532091
Gene Chromosome Location
Chr.5: 78002326-78294755 on Build GRCh38
Transcripts
NM_001271769.1 NM_003664.4 XM_005248618.3 XM_017010001.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
6836528 c.3253C>T p.R1085W Chr.5: 78002934-78002934 on Build GRCh38
4662250 c.3274T>A p.S1092T Chr.5: 78002913-78002913 on Build GRCh38
5759205 c.3165G>A p.L1055L Chr.5: 78003022-78003022 on Build GRCh38
1070334 c.3259C>A p.L1087M Chr.5: 78002928-78002928 on Build GRCh38
5774268 c.3132-4C>A p.? Chr.5: 78003059-78003059 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs942517218 Chr.5: 78002894-78002894 on Build GRCh38
rs755468074 Chr.5: 78003012-78003012 on Build GRCh38
rs1009638675 Chr.5: 78002878-78002878 on Build GRCh38
rs767072786 Chr.5: 78002997-78002997 on Build GRCh38
rs777824071 Chr.5: 78003029-78003029 on Build GRCh38
rs751258161 Chr.5: 78002992-78002992 on Build GRCh38
rs34089426 Chr.5: 78002980-78002980 on Build GRCh38
rs778685628 Chr.5: 78003082-78003082 on Build GRCh38
rs764100439 Chr.5: 78002990-78002990 on Build GRCh38
rs776628092 Chr.5: 78003051-78003051 on Build GRCh38
rs772549509 Chr.5: 78003025-78003025 on Build GRCh38
rs755752427 Chr.5: 78002900-78002900 on Build GRCh38
rs767395436 Chr.5: 78003078-78003078 on Build GRCh38
rs200456538 Chr.5: 78002875-78002875 on Build GRCh38
rs769307741 Chr.5: 78002917-78002917 on Build GRCh38
rs772128060 Chr.5: 78002953-78002953 on Build GRCh38
rs773537846 Chr.5: 78002957-78002957 on Build GRCh38
rs748447113 Chr.5: 78003024-78003024 on Build GRCh38
rs761729448 Chr.5: 78002993-78002993 on Build GRCh38
rs535976982 Chr.5: 78003019-78003019 on Build GRCh38
rs750141732 Chr.5: 78003001-78003001 on Build GRCh38
rs780677693 Chr.5: 78002905-78002905 on Build GRCh38
rs760735640 Chr.5: 78002973-78002973 on Build GRCh38
rs753428510 Chr.5: 78003009-78003009 on Build GRCh38
rs146849359 Chr.5: 78003013-78003013 on Build GRCh38
rs771162712 Chr.5: 78003049-78003049 on Build GRCh38
rs779106683 Chr.5: 78002920-78002920 on Build GRCh38
rs375163910 Chr.5: 78002873-78002873 on Build GRCh38
rs755664373 Chr.5: 78003005-78003005 on Build GRCh38
rs759629484 Chr.5: 78003059-78003059 on Build GRCh38
rs780915786 Chr.5: 78002874-78002874 on Build GRCh38
rs976542118 Chr.5: 78002961-78002961 on Build GRCh38
rs546653512 Chr.5: 78003030-78003030 on Build GRCh38
rs759043397 Chr.5: 78003037-78003038 on Build GRCh38
rs746740092 Chr.5: 78003059-78003060 on Build GRCh38
rs749861794 Chr.5: 78002906-78002906 on Build GRCh38
rs991814042 Chr.5: 78003069-78003069 on Build GRCh38
rs768467649 Chr.5: 78003073-78003073 on Build GRCh38
rs893494247 Chr.5: 78003039-78003039 on Build GRCh38
rs137901104 Chr.5: 78002922-78002922 on Build GRCh38
rs779826277 Chr.5: 78003056-78003057 on Build GRCh38
rs143654049 Chr.5: 78002983-78002983 on Build GRCh38
rs201198522 Chr.5: 78003077-78003077 on Build GRCh38
rs200738086 Chr.5: 78003062-78003062 on Build GRCh38
rs754678823 Chr.5: 78003076-78003076 on Build GRCh38
rs762840206 Chr.5: 78002989-78002989 on Build GRCh38
rs151028592 Chr.5: 78002933-78002933 on Build GRCh38
rs779663529 Chr.5: 78003006-78003006 on Build GRCh38
rs745888313 Chr.5: 78003011-78003011 on Build GRCh38
rs1021165592 Chr.5: 78002901-78002901 on Build GRCh38
rs199521659 Chr.5: 78002892-78002892 on Build GRCh38

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