Product Details

Primer Sequences
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Primer Chromosome Location
Chr.11: 18286625-18287131 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
HPS5
Entrez Gene ID
11234
Gene Name
HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
Gene Aliases
AIBP63, BLOC2S2
UniGene
Hs.437599
Gene Chromosome Location
Chr.11: 18278670-18322498 on Build GRCh38
Transcripts
NM_007216.3 NM_181507.1 NM_181508.1 XM_011519862.1 XM_011519863.1 XM_011519864.1 XM_011519865.1 XM_011519866.1 XM_011519867.1 XM_011519868.2 XM_017017149.1 XM_017017150.1 XM_017017151.1 XM_017017152.1 XM_017017153.1 XM_017017154.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
6244503 c.2743C>A p.Q915K Chr.11: 18286685-18286685 on Build GRCh38
4750648 c.2770C>A p.L924M Chr.11: 18286658-18286658 on Build GRCh38
5626579 c.2764G>C p.D922H Chr.11: 18286664-18286664 on Build GRCh38

SNP Detail

SNP ID Chromosome Location
rs527845433 Chr.11: 18286748-18286748 on Build GRCh38
rs11463768 Chr.11: 18286911-18286912 on Build GRCh38
rs557770628 Chr.11: 18287062-18287062 on Build GRCh38
rs866710682 Chr.11: 18287013-18287013 on Build GRCh38
rs114860794 Chr.11: 18286910-18286910 on Build GRCh38
rs773102659 Chr.11: 18286757-18286757 on Build GRCh38
rs565894346 Chr.11: 18287015-18287015 on Build GRCh38
rs4756938 Chr.11: 18287065-18287065 on Build GRCh38
rs1035766675 Chr.11: 18287029-18287029 on Build GRCh38
rs1031270440 Chr.11: 18286852-18286852 on Build GRCh38
rs201625330 Chr.11: 18286709-18286709 on Build GRCh38
rs558585881 Chr.11: 18286698-18286698 on Build GRCh38
rs139795577 Chr.11: 18286707-18286707 on Build GRCh38
rs371993799 Chr.11: 18286921-18286921 on Build GRCh38
rs1036666705 Chr.11: 18286931-18286932 on Build GRCh38
rs769771122 Chr.11: 18286749-18286749 on Build GRCh38
rs980062672 Chr.11: 18286824-18286824 on Build GRCh38
rs764769183 Chr.11: 18286795-18286795 on Build GRCh38
rs1050193111 Chr.11: 18286949-18286949 on Build GRCh38
rs909193573 Chr.11: 18286923-18286923 on Build GRCh38
rs767233131 Chr.11: 18286778-18286778 on Build GRCh38
rs991667190 Chr.11: 18287064-18287064 on Build GRCh38
rs777644651 Chr.11: 18287096-18287096 on Build GRCh38
rs568350351 Chr.11: 18286877-18286877 on Build GRCh38
rs765983446 Chr.11: 18286672-18286672 on Build GRCh38
rs531911629 Chr.11: 18286836-18286836 on Build GRCh38
rs759228224 Chr.11: 18286776-18286776 on Build GRCh38
rs1052182124 Chr.11: 18286847-18286847 on Build GRCh38
rs752810214 Chr.11: 18286796-18286796 on Build GRCh38
rs1021386969 Chr.11: 18287069-18287069 on Build GRCh38
rs1016681975 Chr.11: 18287010-18287010 on Build GRCh38
rs866443749 Chr.11: 18286726-18286727 on Build GRCh38
rs761359061 Chr.11: 18287026-18287026 on Build GRCh38
rs560337191 Chr.11: 18286737-18286737 on Build GRCh38
rs11821169 Chr.11: 18286996-18286996 on Build GRCh38
rs776049579 Chr.11: 18286782-18286782 on Build GRCh38
rs397720004 Chr.11: 18286921-18286922 on Build GRCh38
rs550191081 Chr.11: 18286871-18286871 on Build GRCh38
rs571081630 Chr.11: 18286809-18286809 on Build GRCh38
rs759757206 Chr.11: 18286722-18286722 on Build GRCh38
rs560314210 Chr.11: 18287030-18287030 on Build GRCh38
rs375162837 Chr.11: 18286708-18286708 on Build GRCh38
rs540704775 Chr.11: 18286718-18286718 on Build GRCh38
rs933136134 Chr.11: 18286909-18286909 on Build GRCh38
rs751216507 Chr.11: 18286683-18286683 on Build GRCh38
rs968441269 Chr.11: 18286819-18286819 on Build GRCh38
rs780994128 Chr.11: 18286746-18286746 on Build GRCh38
rs188743049 Chr.11: 18287027-18287027 on Build GRCh38
rs969377718 Chr.11: 18287067-18287067 on Build GRCh38
rs78704181 Chr.11: 18286650-18286650 on Build GRCh38
rs766581269 Chr.11: 18286727-18286728 on Build GRCh38
rs762501695 Chr.11: 18286656-18286656 on Build GRCh38
rs904162774 Chr.11: 18287090-18287090 on Build GRCh38
rs796684575 Chr.11: 18286911-18286911 on Build GRCh38
rs144854258 Chr.11: 18286765-18286765 on Build GRCh38
rs942056741 Chr.11: 18286924-18286935 on Build GRCh38
rs778406605 Chr.11: 18286733-18286733 on Build GRCh38
rs761094464 Chr.11: 18286790-18286790 on Build GRCh38
rs779063791 Chr.11: 18286740-18286740 on Build GRCh38
rs992335400 Chr.11: 18286884-18286884 on Build GRCh38
rs199741879 Chr.11: 18286704-18286704 on Build GRCh38
rs535978881 Chr.11: 18286963-18286963 on Build GRCh38
rs773674380 Chr.11: 18286773-18286773 on Build GRCh38
rs377006566 Chr.11: 18286899-18286899 on Build GRCh38
rs980903266 Chr.11: 18286922-18286922 on Build GRCh38
rs1006103844 Chr.11: 18287009-18287009 on Build GRCh38
rs530672463 Chr.11: 18286910-18286911 on Build GRCh38
rs751418209 Chr.11: 18286668-18286668 on Build GRCh38
rs772121827 Chr.11: 18286745-18286745 on Build GRCh38
rs543503200 Chr.11: 18286817-18286817 on Build GRCh38
rs368811202 Chr.11: 18286738-18286738 on Build GRCh38

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