Product Details

Primer Sequences
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Primer Chromosome Location
Chr.5: 78100810-78101081 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_005248619.4 XM_017010001.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
1070340 c.2404G>T p.E802* Chr.5: 78101019-78101019 on Build GRCh38
3074357 c.2458G>C p.D820H Chr.5: 78100965-78100965 on Build GRCh38
3715266 c.2450C>G p.S817* Chr.5: 78100973-78100973 on Build GRCh38
5466552 c.2409G>T p.K803N Chr.5: 78101014-78101014 on Build GRCh38
5793898 c.2468A>T p.D823V Chr.5: 78100955-78100955 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs200664741 Chr.5: 78100989-78100989 on Build GRCh38
rs199702315 Chr.5: 78101012-78101014 on Build GRCh38
rs562715636 Chr.5: 78100876-78100876 on Build GRCh38
rs778787839 Chr.5: 78100983-78100983 on Build GRCh38
rs183594512 Chr.5: 78100858-78100858 on Build GRCh38
rs776144895 Chr.5: 78101000-78101000 on Build GRCh38
rs144240072 Chr.5: 78100999-78100999 on Build GRCh38
rs760360560 Chr.5: 78100996-78100996 on Build GRCh38
rs1028498771 Chr.5: 78101012-78101012 on Build GRCh38
rs780956781 Chr.5: 78100913-78100914 on Build GRCh38
rs995050962 Chr.5: 78100874-78100874 on Build GRCh38
rs745949614 Chr.5: 78100939-78100939 on Build GRCh38
rs886060771 Chr.5: 78101018-78101018 on Build GRCh38
rs962234419 Chr.5: 78100860-78100860 on Build GRCh38
rs747769671 Chr.5: 78100943-78100944 on Build GRCh38
rs763279940 Chr.5: 78101041-78101041 on Build GRCh38
rs781266062 Chr.5: 78100921-78100921 on Build GRCh38
rs773160439 Chr.5: 78100994-78100994 on Build GRCh38
rs955495559 Chr.5: 78101053-78101053 on Build GRCh38
rs759025664 Chr.5: 78101007-78101007 on Build GRCh38
rs530879102 Chr.5: 78100897-78100897 on Build GRCh38
rs556568288 Chr.5: 78100943-78100943 on Build GRCh38
rs765769050 Chr.5: 78101022-78101022 on Build GRCh38
rs754697893 Chr.5: 78100908-78100911 on Build GRCh38
rs777457548 Chr.5: 78101047-78101058 on Build GRCh38
rs372847987 Chr.5: 78100977-78100977 on Build GRCh38
rs753240796 Chr.5: 78101029-78101029 on Build GRCh38
rs986731590 Chr.5: 78100936-78100936 on Build GRCh38
rs772045234 Chr.5: 78100991-78100991 on Build GRCh38

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