Product Details

Primer Sequences
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Primer Chromosome Location
Chr.22: 26457767-26458265 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
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

Cosmic ID Mutation AA Transcript Location
6681967 c.1922G>A p.R641H Chr.22: 26457931-26457931 on Build GRCh38
7297856 c.1935G>A p.A645A Chr.22: 26457879-26457879 on Build GRCh38
726050 c.1934C>T p.A645V Chr.22: 26457880-26457880 on Build GRCh38
1032966 c.1932C>T p.P644P Chr.22: 26457882-26457882 on Build GRCh38
478828 c.1934C>A p.A645D Chr.22: 26457919-26457919 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs570066049 Chr.22: 26458141-26458141 on Build GRCh38
rs1017918491 Chr.22: 26458222-26458222 on Build GRCh38
rs958156139 Chr.22: 26458136-26458136 on Build GRCh38
rs878966136 Chr.22: 26457996-26457996 on Build GRCh38
rs774710039 Chr.22: 26457826-26457826 on Build GRCh38
rs943545373 Chr.22: 26458051-26458051 on Build GRCh38
rs776644648 Chr.22: 26457934-26457934 on Build GRCh38
rs745559996 Chr.22: 26457904-26457904 on Build GRCh38
rs745886017 Chr.22: 26458015-26458015 on Build GRCh38
rs974907285 Chr.22: 26458179-26458179 on Build GRCh38
rs749888433 Chr.22: 26457964-26457964 on Build GRCh38
rs202222123 Chr.22: 26457917-26457917 on Build GRCh38
rs1894705 Chr.22: 26458014-26458014 on Build GRCh38
rs200191479 Chr.22: 26457828-26457828 on Build GRCh38
rs750963690 Chr.22: 26457864-26457864 on Build GRCh38
rs1894704 Chr.22: 26457939-26457939 on Build GRCh38
rs777509970 Chr.22: 26457860-26457860 on Build GRCh38
rs119471021 Chr.22: 26457923-26457923 on Build GRCh38
rs964074507 Chr.22: 26458235-26458235 on Build GRCh38
rs73160870 Chr.22: 26458087-26458087 on Build GRCh38
rs538187229 Chr.22: 26457881-26457881 on Build GRCh38
rs912160312 Chr.22: 26458151-26458151 on Build GRCh38
rs548597160 Chr.22: 26458139-26458139 on Build GRCh38
rs770895794 Chr.22: 26457932-26457932 on Build GRCh38
rs377050180 Chr.22: 26457891-26457891 on Build GRCh38
rs868282477 Chr.22: 26458193-26458193 on Build GRCh38
rs942438015 Chr.22: 26458029-26458029 on Build GRCh38
rs763308032 Chr.22: 26457909-26457909 on Build GRCh38
rs771567240 Chr.22: 26458049-26458049 on Build GRCh38
rs373905924 Chr.22: 26457883-26457883 on Build GRCh38
rs930822211 Chr.22: 26458197-26458197 on Build GRCh38
rs775683107 Chr.22: 26458131-26458131 on Build GRCh38
rs773844011 Chr.22: 26457953-26457953 on Build GRCh38
rs888403976 Chr.22: 26458119-26458119 on Build GRCh38
rs776631201 Chr.22: 26457820-26457820 on Build GRCh38
rs536669961 Chr.22: 26457833-26457833 on Build GRCh38
rs1024200757 Chr.22: 26458115-26458115 on Build GRCh38
rs898931483 Chr.22: 26458070-26458070 on Build GRCh38
rs1006212448 Chr.22: 26457921-26457921 on Build GRCh38
rs920729165 Chr.22: 26458192-26458192 on Build GRCh38
rs561198424 Chr.22: 26458180-26458180 on Build GRCh38
rs532757535 Chr.22: 26458062-26458062 on Build GRCh38
rs760814660 Chr.22: 26457837-26457837 on Build GRCh38
rs200967353 Chr.22: 26457821-26457821 on Build GRCh38
rs1005884926 Chr.22: 26458126-26458126 on Build GRCh38
rs1045344504 Chr.22: 26458231-26458231 on Build GRCh38
rs553114134 Chr.22: 26457912-26457912 on Build GRCh38
rs905775942 Chr.22: 26458129-26458129 on Build GRCh38
rs760087525 Chr.22: 26457896-26457896 on Build GRCh38
rs560591308 Chr.22: 26457943-26457943 on Build GRCh38
rs778821267 Chr.22: 26457999-26457999 on Build GRCh38
rs374238081 Chr.22: 26457958-26457958 on Build GRCh38
rs757994858 Chr.22: 26457857-26457857 on Build GRCh38
rs958087682 Chr.22: 26457993-26457993 on Build GRCh38
rs201385335 Chr.22: 26457924-26457924 on Build GRCh38
rs757458387 Chr.22: 26458009-26458009 on Build GRCh38
rs775986716 Chr.22: 26457942-26457942 on Build GRCh38
rs139675793 Chr.22: 26457926-26457926 on Build GRCh38
rs914172192 Chr.22: 26457840-26457840 on Build GRCh38
rs990005233 Chr.22: 26458138-26458138 on Build GRCh38
rs553852142 Chr.22: 26457929-26457929 on Build GRCh38
rs752326891 Chr.22: 26457853-26457853 on Build GRCh38
rs78892693 Chr.22: 26457931-26457931 on Build GRCh38
rs777220140 Chr.22: 26458061-26458061 on Build GRCh38
rs149340443 Chr.22: 26457841-26457841 on Build GRCh38
rs749034221 Chr.22: 26457925-26457925 on Build GRCh38
rs281865099 Chr.22: 26457948-26457948 on Build GRCh38
rs750362522 Chr.22: 26457919-26457919 on Build GRCh38
rs907600789 Chr.22: 26458220-26458220 on Build GRCh38
rs537706491 Chr.22: 26458150-26458150 on Build GRCh38
rs755700962 Chr.22: 26457982-26457982 on Build GRCh38
rs368794951 Chr.22: 26457997-26457997 on Build GRCh38
rs781176374 Chr.22: 26457981-26457982 on Build GRCh38
rs949784713 Chr.22: 26458230-26458230 on Build GRCh38
rs187299338 Chr.22: 26457832-26457832 on Build GRCh38
rs878990544 Chr.22: 26457876-26457876 on Build GRCh38
rs770730164 Chr.22: 26457811-26457811 on Build GRCh38
rs749128912 Chr.22: 26457880-26457880 on Build GRCh38
rs1047977060 Chr.22: 26458201-26458201 on Build GRCh38
rs373770186 Chr.22: 26457842-26457842 on Build GRCh38
rs979888734 Chr.22: 26457962-26457962 on Build GRCh38
rs999727349 Chr.22: 26458160-26458160 on Build GRCh38
rs776976418 Chr.22: 26457892-26457892 on Build GRCh38
rs35993959 Chr.22: 26457915-26457915 on Build GRCh38
rs150645130 Chr.22: 26458114-26458115 on Build GRCh38
rs1013920231 Chr.22: 26458113-26458113 on Build GRCh38
rs1001337179 Chr.22: 26458130-26458130 on Build GRCh38
rs753017691 Chr.22: 26457905-26457905 on Build GRCh38
rs377423056 Chr.22: 26457991-26457991 on Build GRCh38
rs547548142 Chr.22: 26458071-26458071 on Build GRCh38
rs747458376 Chr.22: 26457985-26457985 on Build GRCh38
rs192096285 Chr.22: 26458106-26458106 on Build GRCh38
rs373421312 Chr.22: 26457957-26457957 on Build GRCh38
rs78776248 Chr.22: 26458000-26458000 on Build GRCh38
rs765753447 Chr.22: 26457900-26457900 on Build GRCh38
rs180897269 Chr.22: 26458236-26458236 on Build GRCh38
rs769678704 Chr.22: 26457879-26457879 on Build GRCh38
rs1047401696 Chr.22: 26458098-26458098 on Build GRCh38
rs146303784 Chr.22: 26457867-26457867 on Build GRCh38
rs759641785 Chr.22: 26457935-26457935 on Build GRCh38
rs1033754962 Chr.22: 26457992-26457992 on Build GRCh38
rs967136407 Chr.22: 26458142-26458142 on Build GRCh38
rs769769322 Chr.22: 26457823-26457823 on Build GRCh38
rs766407420 Chr.22: 26457983-26457983 on Build GRCh38
rs780978556 Chr.22: 26457869-26457869 on Build GRCh38
rs370795890 Chr.22: 26457918-26457918 on Build GRCh38
rs764206283 Chr.22: 26458145-26458145 on Build GRCh38
rs936699336 Chr.22: 26457829-26457829 on Build GRCh38
rs745866776 Chr.22: 26457873-26457873 on Build GRCh38
rs943576377 Chr.22: 26458177-26458177 on Build GRCh38

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