Product Details

Primer Sequences

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Primer Chromosome Location

Chr.22: 26458376-26458649 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
1740739	c.1718A>G	p.H573R	Chr.22: 26458573-26458573 on Build GRCh38
4531765	c.1822G>A	p.D608N	Chr.22: 26458469-26458469 on Build GRCh38
6526431	c.1783G>T	p.A595S	Chr.22: 26458508-26458508 on Build GRCh38
3842362	c.1794G>A	p.T598T	Chr.22: 26458497-26458497 on Build GRCh38
4103177	c.1754A>G	p.Y585C	Chr.22: 26458576-26458576 on Build GRCh38
7371466	c.1786G>A	p.E596K	Chr.22: 26458544-26458544 on Build GRCh38
5859091	c.1814G>T	p.R605M	Chr.22: 26458516-26458516 on Build GRCh38
5859093	c.1810C>T	p.P604S	Chr.22: 26458520-26458520 on Build GRCh38
7338293	c.1762G>A	p.E588K	Chr.22: 26458529-26458529 on Build GRCh38
1740740	c.1757A>G	p.H586R	Chr.22: 26458573-26458573 on Build GRCh38
6242257	c.1772C>A	p.P591H	Chr.22: 26458519-26458519 on Build GRCh38
7204353	c.1746G>C	p.L582L	Chr.22: 26458545-26458545 on Build GRCh38
3842363	c.1833G>A	p.T611T	Chr.22: 26458497-26458497 on Build GRCh38
5366420	c.1766C>T	p.T589M	Chr.22: 26458525-26458525 on Build GRCh38
6526432	c.1822G>T	p.A608S	Chr.22: 26458508-26458508 on Build GRCh38
6337195	c.1753C>A	p.H585N	Chr.22: 26458538-26458538 on Build GRCh38
7338294	c.1801G>A	p.E601K	Chr.22: 26458529-26458529 on Build GRCh38
7204354	c.1785G>C	p.L595L	Chr.22: 26458545-26458545 on Build GRCh38
4794207	c.1827C>T	p.R609R	Chr.22: 26458464-26458464 on Build GRCh38
6242258	c.1811C>A	p.P604H	Chr.22: 26458519-26458519 on Build GRCh38
4156096	c.1816C>T	p.H606Y	Chr.22: 26458475-26458475 on Build GRCh38
7137873	c.1775G>C	p.R592T	Chr.22: 26458516-26458516 on Build GRCh38
3552981	c.1753C>T	p.H585Y	Chr.22: 26458538-26458538 on Build GRCh38
5366421	c.1805C>T	p.T602M	Chr.22: 26458525-26458525 on Build GRCh38
6337196	c.1792C>A	p.H598N	Chr.22: 26458538-26458538 on Build GRCh38
4531766	c.1861G>A	p.D621N	Chr.22: 26458469-26458469 on Build GRCh38
4794208	c.1866C>T	p.R622R	Chr.22: 26458464-26458464 on Build GRCh38
5859090	c.1775G>T	p.R592M	Chr.22: 26458516-26458516 on Build GRCh38
4103176	c.1715A>G	p.Y572C	Chr.22: 26458576-26458576 on Build GRCh38
3552982	c.1792C>T	p.H598Y	Chr.22: 26458538-26458538 on Build GRCh38
4156097	c.1855C>T	p.H619Y	Chr.22: 26458475-26458475 on Build GRCh38
7371465	c.1747G>A	p.E583K	Chr.22: 26458544-26458544 on Build GRCh38
7137874	c.1814G>C	p.R605T	Chr.22: 26458516-26458516 on Build GRCh38
5859092	c.1771C>T	p.P591S	Chr.22: 26458520-26458520 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs983626889	Chr.22: 26458515-26458515 on Build GRCh38
rs781375770	Chr.22: 26458465-26458465 on Build GRCh38
rs764040685	Chr.22: 26458597-26458597 on Build GRCh38
rs541601069	Chr.22: 26458524-26458524 on Build GRCh38
rs772632659	Chr.22: 26458489-26458489 on Build GRCh38
rs765161412	Chr.22: 26458513-26458513 on Build GRCh38
rs200607238	Chr.22: 26458415-26458415 on Build GRCh38
rs776169421	Chr.22: 26458504-26458504 on Build GRCh38
rs145481980	Chr.22: 26458544-26458544 on Build GRCh38
rs756278524	Chr.22: 26458535-26458535 on Build GRCh38
rs371342669	Chr.22: 26458522-26458522 on Build GRCh38
rs745665820	Chr.22: 26458470-26458471 on Build GRCh38
rs779303648	Chr.22: 26458480-26458480 on Build GRCh38
rs758970516	Chr.22: 26458506-26458506 on Build GRCh38
rs770643481	Chr.22: 26458585-26458585 on Build GRCh38
rs772546709	Chr.22: 26458560-26458560 on Build GRCh38
rs748643364	Chr.22: 26458557-26458557 on Build GRCh38
rs1045376952	Chr.22: 26458556-26458556 on Build GRCh38
rs759070239	Chr.22: 26458587-26458587 on Build GRCh38
rs375744173	Chr.22: 26458418-26458418 on Build GRCh38
rs374277298	Chr.22: 26458593-26458593 on Build GRCh38
rs778239048	Chr.22: 26458562-26458562 on Build GRCh38
rs766612334	Chr.22: 26458609-26458609 on Build GRCh38
rs374834354	Chr.22: 26458413-26458413 on Build GRCh38
rs758138934	Chr.22: 26458455-26458455 on Build GRCh38
rs751313927	Chr.22: 26458606-26458606 on Build GRCh38
rs775972251	Chr.22: 26458412-26458412 on Build GRCh38
rs747411315	Chr.22: 26458564-26458564 on Build GRCh38
rs776157678	Chr.22: 26458586-26458586 on Build GRCh38
rs999611252	Chr.22: 26458474-26458474 on Build GRCh38
rs769250305	Chr.22: 26458588-26458588 on Build GRCh38
rs754076687	Chr.22: 26458610-26458610 on Build GRCh38
rs372420536	Chr.22: 26458417-26458417 on Build GRCh38
rs773058129	Chr.22: 26458420-26458420 on Build GRCh38
rs761599881	Chr.22: 26458607-26458607 on Build GRCh38
rs779471156	Chr.22: 26458552-26458552 on Build GRCh38
rs565596162	Chr.22: 26458495-26458495 on Build GRCh38
rs982508737	Chr.22: 26458551-26458551 on Build GRCh38
rs754899131	Chr.22: 26458437-26458437 on Build GRCh38
rs775463811	Chr.22: 26458591-26458591 on Build GRCh38
rs752467533	Chr.22: 26458454-26458454 on Build GRCh38
rs760258124	Chr.22: 26458432-26458432 on Build GRCh38
rs750621357	Chr.22: 26458532-26458532 on Build GRCh38
rs769405747	Chr.22: 26458472-26458473 on Build GRCh38
rs797045615	Chr.22: 26458576-26458576 on Build GRCh38
rs780284817	Chr.22: 26458539-26458539 on Build GRCh38
rs746151193	Chr.22: 26458466-26458466 on Build GRCh38
rs368334509	Chr.22: 26458477-26458477 on Build GRCh38
rs767141806	Chr.22: 26458419-26458419 on Build GRCh38
rs756155749	Chr.22: 26458470-26458470 on Build GRCh38
rs1894706	Chr.22: 26458475-26458475 on Build GRCh38
rs779927531	Chr.22: 26458552-26458552 on Build GRCh38
rs149689335	Chr.22: 26458498-26458498 on Build GRCh38
rs768878482	Chr.22: 26458414-26458414 on Build GRCh38
rs748533902	Chr.22: 26458483-26458483 on Build GRCh38
rs770733264	Chr.22: 26458503-26458503 on Build GRCh38
rs765121677	Chr.22: 26458450-26458450 on Build GRCh38
rs370380305	Chr.22: 26458433-26458433 on Build GRCh38
rs34142623	Chr.22: 26458431-26458432 on Build GRCh38
rs749347544	Chr.22: 26458476-26458476 on Build GRCh38
rs763915972	Chr.22: 26458525-26458525 on Build GRCh38
rs755073092	Chr.22: 26458549-26458549 on Build GRCh38

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