Product Details

Primer Sequences
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Primer Chromosome Location
Chr.5: 78039059-78039467 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
256323 c.2734C>T p.R912* Chr.5: 78039118-78039118 on Build GRCh38
6435361 c.2759G>A p.G920E Chr.5: 78039093-78039093 on Build GRCh38
335223 c.2578-2A>T p.? Chr.5: 78039276-78039276 on Build GRCh38
272344 c.2762A>G p.E921G Chr.5: 78039090-78039090 on Build GRCh38
739173 c.2760G>A p.G920G Chr.5: 78039092-78039092 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs574048736 Chr.5: 78039088-78039088 on Build GRCh38
rs748349624 Chr.5: 78039308-78039308 on Build GRCh38
rs549430004 Chr.5: 78039430-78039430 on Build GRCh38
rs758362682 Chr.5: 78039274-78039275 on Build GRCh38
rs375205110 Chr.5: 78039200-78039200 on Build GRCh38
rs752519227 Chr.5: 78039118-78039118 on Build GRCh38
rs773298750 Chr.5: 78039226-78039226 on Build GRCh38
rs766253370 Chr.5: 78039276-78039277 on Build GRCh38
rs869312835 Chr.5: 78039150-78039150 on Build GRCh38
rs753810749 Chr.5: 78039090-78039090 on Build GRCh38
rs1012460442 Chr.5: 78039299-78039299 on Build GRCh38
rs866933996 Chr.5: 78039216-78039216 on Build GRCh38
rs139344924 Chr.5: 78039191-78039191 on Build GRCh38
rs1027209354 Chr.5: 78039434-78039434 on Build GRCh38
rs780503803 Chr.5: 78039181-78039181 on Build GRCh38
rs1003882349 Chr.5: 78039364-78039364 on Build GRCh38
rs781759536 Chr.5: 78039162-78039162 on Build GRCh38
rs780808774 Chr.5: 78039274-78039274 on Build GRCh38
rs756994406 Chr.5: 78039271-78039271 on Build GRCh38
rs750433644 Chr.5: 78039156-78039157 on Build GRCh38
rs770455413 Chr.5: 78039179-78039179 on Build GRCh38
rs749958172 Chr.5: 78039285-78039285 on Build GRCh38
rs371578712 Chr.5: 78039315-78039315 on Build GRCh38
rs1016573792 Chr.5: 78039367-78039367 on Build GRCh38
rs200985176 Chr.5: 78039085-78039085 on Build GRCh38
rs906398315 Chr.5: 78039309-78039309 on Build GRCh38
rs766567988 Chr.5: 78039431-78039431 on Build GRCh38
rs774631707 Chr.5: 78039143-78039143 on Build GRCh38
rs749613820 Chr.5: 78039295-78039295 on Build GRCh38
rs746328055 Chr.5: 78039163-78039163 on Build GRCh38
rs994187250 Chr.5: 78039374-78039374 on Build GRCh38
rs765162490 Chr.5: 78039238-78039238 on Build GRCh38
rs898145384 Chr.5: 78039413-78039413 on Build GRCh38
rs763647354 Chr.5: 78039256-78039256 on Build GRCh38
rs773208937 Chr.5: 78039316-78039316 on Build GRCh38
rs561977108 Chr.5: 78039132-78039132 on Build GRCh38
rs886998693 Chr.5: 78039330-78039330 on Build GRCh38
rs1056281695 Chr.5: 78039265-78039265 on Build GRCh38
rs774705050 Chr.5: 78039209-78039209 on Build GRCh38
rs764958808 Chr.5: 78039095-78039095 on Build GRCh38
rs759300647 Chr.5: 78039094-78039094 on Build GRCh38
rs368468915 Chr.5: 78039307-78039307 on Build GRCh38
rs146624866 Chr.5: 78039267-78039267 on Build GRCh38
rs897138593 Chr.5: 78039359-78039359 on Build GRCh38
rs756834284 Chr.5: 78039152-78039152 on Build GRCh38
rs532846547 Chr.5: 78039286-78039286 on Build GRCh38
rs758490782 Chr.5: 78039392-78039392 on Build GRCh38
rs761878887 Chr.5: 78039184-78039184 on Build GRCh38
rs762861855 Chr.5: 78039241-78039241 on Build GRCh38
rs772186737 Chr.5: 78039225-78039225 on Build GRCh38
rs761764690 Chr.5: 78039212-78039212 on Build GRCh38
rs143527588 Chr.5: 78039122-78039122 on Build GRCh38
rs1045693676 Chr.5: 78039327-78039327 on Build GRCh38
rs530259943 Chr.5: 78039419-78039419 on Build GRCh38
rs769108487 Chr.5: 78039305-78039305 on Build GRCh38
rs144420604 Chr.5: 78039239-78039239 on Build GRCh38
rs201179527 Chr.5: 78039083-78039083 on Build GRCh38

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