Product Details

Primer Sequences

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Primer Chromosome Location

Chr.22: 26464213-26464704 on Build GRCh38 View in UCSC browser

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

HPS4

Entrez Gene ID

89781

Gene Name

HPS4, biogenesis of lysosomal organelles complex 3 subunit 2

Gene Aliases

BLOC3S2, LE

UniGene

Hs.474436

Gene Chromosome Location

Chr.22: 26443613-26483863 on Build GRCh38

Transcripts

NM_022081.5 NM_152841.2 NR_073135.1 NR_073136.1 XM_006724353.3 XM_006724354.3 XM_006724360.3 XM_011530485.1 XM_011530486.2 XM_011530487.2 XM_011530488.2 XM_011530489.2 XM_011530490.2 XM_011530491.2 XM_011530492.1 XM_011530493.2 XM_011530494.2 XM_011530495.2 XM_011530496.2 XM_017029042.1 XM_017029043.1 XM_017029044.1 XM_017029045.1 XM_017029046.1 XM_017029047.1 XM_017029048.1 XM_017029049.1 XM_017029050.1 XM_017029051.1 XM_017029052.1 XM_017029053.1 XM_017029054.1 XM_017029055.1 XM_017029056.1 XM_017029057.1 XM_017029058.1 XM_017029059.1 XM_017029060.1 XM_017029061.1 XM_017029062.1 XM_017029063.1 XM_017029064.1

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
1032977	c.985G>A	p.E329K	Chr.22: 26464684-26464684 on Build GRCh38
4691095	c.1180G>A	p.E394K	Chr.22: 26464489-26464489 on Build GRCh38
2935545	c.997G>C	p.D333H	Chr.22: 26464672-26464672 on Build GRCh38
212770	c.1271G>A	p.S424N	Chr.22: 26464359-26464359 on Build GRCh38
5812621	c.985G>T	p.E329*	Chr.22: 26464684-26464684 on Build GRCh38
5698414	c.980G>T	p.C327F	Chr.22: 26464650-26464650 on Build GRCh38
7316301	c.945C>T	p.D315D	Chr.22: 26464685-26464685 on Build GRCh38
4103183	c.1261G>A	p.A421T	Chr.22: 26464408-26464408 on Build GRCh38
3912543	c.932C>T	p.P311L	Chr.22: 26464698-26464698 on Build GRCh38
1308028	c.1360G>C	p.E454Q	Chr.22: 26464309-26464309 on Build GRCh38
7252620	c.928G>C	p.D310H	Chr.22: 26464702-26464702 on Build GRCh38
5684804	c.1434C>T	p.T478T	Chr.22: 26464235-26464235 on Build GRCh38
7316302	c.984C>T	p.D328D	Chr.22: 26464685-26464685 on Build GRCh38
281768	c.1368C>T	p.L456L	Chr.22: 26464301-26464301 on Build GRCh38
3964166	c.999T>G	p.D333E	Chr.22: 26464670-26464670 on Build GRCh38
4819886	c.1388G>A	p.R463K	Chr.22: 26464242-26464242 on Build GRCh38
1209947	c.1148C>T	p.A383V	Chr.22: 26464482-26464482 on Build GRCh38
4923271	c.1362C>G	p.P454P	Chr.22: 26464268-26464268 on Build GRCh38
1308027	c.1321G>C	p.E441Q	Chr.22: 26464309-26464309 on Build GRCh38
3552985	c.1366C>T	p.P456S	Chr.22: 26464264-26464264 on Build GRCh38
4298168	c.1379C>A	p.P460H	Chr.22: 26464251-26464251 on Build GRCh38
7252621	c.967G>C	p.D323H	Chr.22: 26464702-26464702 on Build GRCh38
3552989	c.1093G>A	p.E365K	Chr.22: 26464537-26464537 on Build GRCh38
1415359	c.1015G>A	p.A339T	Chr.22: 26464615-26464615 on Build GRCh38
4397707	c.1149C>T	p.A383A	Chr.22: 26464481-26464481 on Build GRCh38
3759101	c.1366C>G	p.L456V	Chr.22: 26464303-26464303 on Build GRCh38
4691092	c.1417C>T	p.R473C	Chr.22: 26464213-26464213 on Build GRCh38
3964165	c.960T>G	p.D320E	Chr.22: 26464670-26464670 on Build GRCh38
4819887	c.1427G>A	p.R476K	Chr.22: 26464242-26464242 on Build GRCh38
4691096	c.1004G>T	p.S335I	Chr.22: 26464626-26464626 on Build GRCh38
2935544	c.958G>C	p.D320H	Chr.22: 26464672-26464672 on Build GRCh38
1415358	c.1135G>T	p.E379*	Chr.22: 26464534-26464534 on Build GRCh38
6094904	c.1004G>T	p.R335M	Chr.22: 26464665-26464665 on Build GRCh38
5812620	c.946G>T	p.E316*	Chr.22: 26464684-26464684 on Build GRCh38
1032976	c.946G>A	p.E316K	Chr.22: 26464684-26464684 on Build GRCh38
4923272	c.1401C>G	p.P467P	Chr.22: 26464268-26464268 on Build GRCh38
3552988	c.1306A>G	p.S436G	Chr.22: 26464363-26464363 on Build GRCh38
478831	c.1143A>C	p.E381D	Chr.22: 26464487-26464487 on Build GRCh38
7079484	c.1056C>T	p.L352L	Chr.22: 26464574-26464574 on Build GRCh38
444812	c.1408A>C	p.R470R	Chr.22: 26464261-26464261 on Build GRCh38
4103182	c.1222G>A	p.A408T	Chr.22: 26464408-26464408 on Build GRCh38
3552992	c.979C>T	p.P327S	Chr.22: 26464690-26464690 on Build GRCh38
1032975	c.1190C>G	p.S397*	Chr.22: 26464479-26464479 on Build GRCh38
3759100	c.1327C>G	p.L443V	Chr.22: 26464303-26464303 on Build GRCh38
4691093	c.1456C>T	p.R486C	Chr.22: 26464213-26464213 on Build GRCh38
2935541	c.1384C>A	p.H462N	Chr.22: 26464285-26464285 on Build GRCh38
4691097	c.1043G>T	p.S348I	Chr.22: 26464626-26464626 on Build GRCh38
6559314	c.1259C>A	p.T420K	Chr.22: 26464371-26464371 on Build GRCh38
5684803	c.1395C>T	p.T465T	Chr.22: 26464235-26464235 on Build GRCh38
281767	c.1329C>T	p.L443L	Chr.22: 26464301-26464301 on Build GRCh38
1209948	c.1187C>T	p.A396V	Chr.22: 26464482-26464482 on Build GRCh38
4103185	c.1050G>A	p.R350R	Chr.22: 26464619-26464619 on Build GRCh38
3405565	c.1315C>T	p.R439C	Chr.22: 26464354-26464354 on Build GRCh38
478832	c.1182A>C	p.E394D	Chr.22: 26464487-26464487 on Build GRCh38
7079485	c.1095C>T	p.L365L	Chr.22: 26464574-26464574 on Build GRCh38
149273	c.1138G>C	p.V380L	Chr.22: 26464492-26464492 on Build GRCh38
3552991	c.940C>T	p.P314S	Chr.22: 26464690-26464690 on Build GRCh38
212771	c.1310G>A	p.S437N	Chr.22: 26464359-26464359 on Build GRCh38
6559315	c.1298C>A	p.T433K	Chr.22: 26464371-26464371 on Build GRCh38
5698415	c.1019G>T	p.C340F	Chr.22: 26464650-26464650 on Build GRCh38
3912544	c.971C>T	p.P324L	Chr.22: 26464698-26464698 on Build GRCh38
6094903	c.965G>T	p.R322M	Chr.22: 26464665-26464665 on Build GRCh38
3405564	c.1276C>T	p.R426C	Chr.22: 26464354-26464354 on Build GRCh38
1415357	c.1096G>T	p.E366*	Chr.22: 26464534-26464534 on Build GRCh38
444811	c.1369A>C	p.R457R	Chr.22: 26464261-26464261 on Build GRCh38
3552987	c.1267A>G	p.S423G	Chr.22: 26464363-26464363 on Build GRCh38
1032974	c.1151C>G	p.S384*	Chr.22: 26464479-26464479 on Build GRCh38
2935540	c.1345C>A	p.H449N	Chr.22: 26464285-26464285 on Build GRCh38
4691094	c.1141G>A	p.E381K	Chr.22: 26464489-26464489 on Build GRCh38
4298169	c.1418C>A	p.P473H	Chr.22: 26464251-26464251 on Build GRCh38
1415360	c.1054G>A	p.A352T	Chr.22: 26464615-26464615 on Build GRCh38
3552986	c.1405C>T	p.P469S	Chr.22: 26464264-26464264 on Build GRCh38
4397708	c.1188C>T	p.A396A	Chr.22: 26464481-26464481 on Build GRCh38
4103184	c.1011G>A	p.R337R	Chr.22: 26464619-26464619 on Build GRCh38
3552990	c.1132G>A	p.E378K	Chr.22: 26464537-26464537 on Build GRCh38
149274	c.1177G>C	p.V393L	Chr.22: 26464492-26464492 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs759348602	Chr.22: 26464488-26464488 on Build GRCh38
rs143711674	Chr.22: 26464408-26464408 on Build GRCh38
rs773968140	Chr.22: 26464529-26464542 on Build GRCh38
rs868526867	Chr.22: 26464241-26464241 on Build GRCh38
rs996720116	Chr.22: 26464481-26464481 on Build GRCh38
rs758581869	Chr.22: 26464341-26464341 on Build GRCh38
rs117114544	Chr.22: 26464323-26464323 on Build GRCh38
rs200477299	Chr.22: 26464471-26464471 on Build GRCh38
rs372970834	Chr.22: 26464594-26464594 on Build GRCh38
rs750452419	Chr.22: 26464317-26464317 on Build GRCh38
rs186173240	Chr.22: 26464270-26464270 on Build GRCh38
rs764993355	Chr.22: 26464490-26464490 on Build GRCh38
rs142139781	Chr.22: 26464450-26464450 on Build GRCh38
rs772205948	Chr.22: 26464247-26464247 on Build GRCh38
rs776612681	Chr.22: 26464546-26464546 on Build GRCh38
rs202197120	Chr.22: 26464684-26464684 on Build GRCh38
rs749976459	Chr.22: 26464396-26464396 on Build GRCh38
rs983056340	Chr.22: 26464254-26464254 on Build GRCh38
rs2014410	Chr.22: 26464303-26464303 on Build GRCh38
rs376253108	Chr.22: 26464528-26464528 on Build GRCh38
rs760276585	Chr.22: 26464480-26464480 on Build GRCh38
rs771794197	Chr.22: 26464522-26464522 on Build GRCh38
rs369393785	Chr.22: 26464538-26464538 on Build GRCh38
rs759075680	Chr.22: 26464572-26464572 on Build GRCh38
rs772691909	Chr.22: 26464553-26464553 on Build GRCh38
rs386820399	Chr.22: 26464569-26464570 on Build GRCh38
rs371109134	Chr.22: 26464674-26464674 on Build GRCh38
rs765633123	Chr.22: 26464297-26464297 on Build GRCh38
rs964934683	Chr.22: 26464478-26464478 on Build GRCh38
rs775959392	Chr.22: 26464634-26464634 on Build GRCh38
rs753803734	Chr.22: 26464681-26464681 on Build GRCh38
rs746818979	Chr.22: 26464361-26464361 on Build GRCh38
rs113242819	Chr.22: 26464590-26464590 on Build GRCh38
rs1042492421	Chr.22: 26464610-26464610 on Build GRCh38
rs751013277	Chr.22: 26464305-26464305 on Build GRCh38
rs757426392	Chr.22: 26464496-26464496 on Build GRCh38
rs781196776	Chr.22: 26464418-26464418 on Build GRCh38
rs773303744	Chr.22: 26464252-26464252 on Build GRCh38
rs1040644043	Chr.22: 26464666-26464666 on Build GRCh38
rs951352992	Chr.22: 26464372-26464372 on Build GRCh38
rs769041433	Chr.22: 26464514-26464514 on Build GRCh38
rs746418898	Chr.22: 26464363-26464363 on Build GRCh38
rs375526010	Chr.22: 26464453-26464453 on Build GRCh38
rs780435239	Chr.22: 26464432-26464432 on Build GRCh38
rs114685298	Chr.22: 26464570-26464570 on Build GRCh38
rs777875261	Chr.22: 26464348-26464348 on Build GRCh38
rs777094703	Chr.22: 26464360-26464360 on Build GRCh38
rs753983512	Chr.22: 26464589-26464589 on Build GRCh38
rs372499859	Chr.22: 26464338-26464338 on Build GRCh38
rs766233510	Chr.22: 26464399-26464399 on Build GRCh38
rs751823743	Chr.22: 26464412-26464412 on Build GRCh38
rs773460422	Chr.22: 26464661-26464661 on Build GRCh38
rs373523675	Chr.22: 26464433-26464433 on Build GRCh38
rs369053765	Chr.22: 26464498-26464498 on Build GRCh38
rs767548244	Chr.22: 26464314-26464314 on Build GRCh38
rs377095634	Chr.22: 26464519-26464519 on Build GRCh38
rs773931864	Chr.22: 26464386-26464386 on Build GRCh38
rs775881151	Chr.22: 26464370-26464370 on Build GRCh38
rs765186595	Chr.22: 26464562-26464562 on Build GRCh38
rs745384564	Chr.22: 26464636-26464636 on Build GRCh38
rs763228182	Chr.22: 26464378-26464378 on Build GRCh38
rs375587915	Chr.22: 26464260-26464260 on Build GRCh38
rs761480950	Chr.22: 26464532-26464534 on Build GRCh38
rs770266719	Chr.22: 26464428-26464428 on Build GRCh38
rs1054656108	Chr.22: 26464571-26464571 on Build GRCh38
rs548311034	Chr.22: 26464646-26464646 on Build GRCh38
rs748512719	Chr.22: 26464614-26464614 on Build GRCh38
rs144077166	Chr.22: 26464409-26464409 on Build GRCh38
rs766419128	Chr.22: 26464573-26464573 on Build GRCh38
rs770642869	Chr.22: 26464633-26464633 on Build GRCh38
rs756030696	Chr.22: 26464236-26464236 on Build GRCh38
rs1046054798	Chr.22: 26464308-26464308 on Build GRCh38
rs116769827	Chr.22: 26464569-26464569 on Build GRCh38
rs753787422	Chr.22: 26464483-26464483 on Build GRCh38
rs147435410	Chr.22: 26464234-26464234 on Build GRCh38
rs768468362	Chr.22: 26464277-26464279 on Build GRCh38
rs957749322	Chr.22: 26464269-26464269 on Build GRCh38
rs746693127	Chr.22: 26464619-26464619 on Build GRCh38
rs143965829	Chr.22: 26464672-26464672 on Build GRCh38
rs281865164	Chr.22: 26464657-26464658 on Build GRCh38
rs372828090	Chr.22: 26464515-26464515 on Build GRCh38
rs763743681	Chr.22: 26464385-26464385 on Build GRCh38
rs748136926	Chr.22: 26464274-26464274 on Build GRCh38
rs148662419	Chr.22: 26464420-26464420 on Build GRCh38
rs755952793	Chr.22: 26464334-26464334 on Build GRCh38
rs766628788	Chr.22: 26464675-26464675 on Build GRCh38
rs756839100	Chr.22: 26464310-26464310 on Build GRCh38
rs377326385	Chr.22: 26464654-26464654 on Build GRCh38
rs558884663	Chr.22: 26464506-26464506 on Build GRCh38
rs5761543	Chr.22: 26464322-26464322 on Build GRCh38
rs753613070	Chr.22: 26464404-26464404 on Build GRCh38
rs770221086	Chr.22: 26464369-26464369 on Build GRCh38
rs532646940	Chr.22: 26464547-26464547 on Build GRCh38
rs766330282	Chr.22: 26464482-26464482 on Build GRCh38
rs754066787	Chr.22: 26464245-26464245 on Build GRCh38
rs772783723	Chr.22: 26464465-26464465 on Build GRCh38
rs372027593	Chr.22: 26464235-26464235 on Build GRCh38
rs761403871	Chr.22: 26464390-26464390 on Build GRCh38
rs370007632	Chr.22: 26464393-26464393 on Build GRCh38
rs774114985	Chr.22: 26464447-26464447 on Build GRCh38
rs188300485	Chr.22: 26464616-26464616 on Build GRCh38
rs769658980	Chr.22: 26464637-26464637 on Build GRCh38
rs775195314	Chr.22: 26464566-26464566 on Build GRCh38
rs774979651	Chr.22: 26464300-26464300 on Build GRCh38
rs747080557	Chr.22: 26464353-26464353 on Build GRCh38
rs762613783	Chr.22: 26464301-26464301 on Build GRCh38
rs765478898	Chr.22: 26464529-26464529 on Build GRCh38
rs201043011	Chr.22: 26464398-26464398 on Build GRCh38
rs1019595949	Chr.22: 26464458-26464458 on Build GRCh38
rs779849991	Chr.22: 26464335-26464335 on Build GRCh38
rs777491163	Chr.22: 26464354-26464354 on Build GRCh38
rs375655372	Chr.22: 26464438-26464438 on Build GRCh38
rs763915803	Chr.22: 26464655-26464655 on Build GRCh38
rs778998363	Chr.22: 26464243-26464243 on Build GRCh38
rs749799140	Chr.22: 26464512-26464512 on Build GRCh38
rs752507059	Chr.22: 26464492-26464492 on Build GRCh38
rs758902895	Chr.22: 26464615-26464615 on Build GRCh38

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