Product Details

Primer Sequences
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Primer Chromosome Location
Chr.11: 18283710-18284207 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
4453482 c.3016A>T p.I1006F Chr.11: 18283837-18283837 on Build GRCh38
3769264 c.3014A>G p.N1005S Chr.11: 18283839-18283839 on Build GRCh38
71095 c.3004G>A p.A1002T Chr.11: 18283849-18283849 on Build GRCh38
4691101 c.2974C>A p.L992I Chr.11: 18283879-18283879 on Build GRCh38
1627903 c.3058+9A>G p.? Chr.11: 18283786-18283786 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs756023749 Chr.11: 18283865-18283865 on Build GRCh38
rs747133637 Chr.11: 18283748-18283748 on Build GRCh38
rs199918846 Chr.11: 18283791-18283791 on Build GRCh38
rs755545771 Chr.11: 18283745-18283745 on Build GRCh38
rs756929850 Chr.11: 18283904-18283904 on Build GRCh38
rs529694450 Chr.11: 18283976-18283976 on Build GRCh38
rs1048719019 Chr.11: 18283919-18283919 on Build GRCh38
rs777546599 Chr.11: 18283766-18283766 on Build GRCh38
rs773572686 Chr.11: 18283839-18283839 on Build GRCh38
rs1046302689 Chr.11: 18283967-18283967 on Build GRCh38
rs957791253 Chr.11: 18283753-18283753 on Build GRCh38
rs772617072 Chr.11: 18283790-18283790 on Build GRCh38
rs966901837 Chr.11: 18284095-18284095 on Build GRCh38
rs765515709 Chr.11: 18283836-18283836 on Build GRCh38
rs899761114 Chr.11: 18283969-18283969 on Build GRCh38
rs952936163 Chr.11: 18284171-18284171 on Build GRCh38
rs754365965 Chr.11: 18284167-18284168 on Build GRCh38
rs746271674 Chr.11: 18283908-18283908 on Build GRCh38
rs1021543199 Chr.11: 18284079-18284079 on Build GRCh38
rs768604185 Chr.11: 18283811-18283811 on Build GRCh38
rs753352624 Chr.11: 18283891-18283891 on Build GRCh38
rs550866760 Chr.11: 18283914-18283914 on Build GRCh38
rs113304476 Chr.11: 18283792-18283792 on Build GRCh38
rs181682094 Chr.11: 18283812-18283812 on Build GRCh38
rs559230402 Chr.11: 18283989-18283989 on Build GRCh38
rs74232539 Chr.11: 18284000-18284000 on Build GRCh38
rs767854226 Chr.11: 18284050-18284050 on Build GRCh38
rs143603360 Chr.11: 18284138-18284138 on Build GRCh38
rs61755718 Chr.11: 18283808-18283808 on Build GRCh38
rs752569297 Chr.11: 18283860-18283860 on Build GRCh38
rs931074146 Chr.11: 18284178-18284178 on Build GRCh38
rs17853184 Chr.11: 18283807-18283807 on Build GRCh38
rs991775307 Chr.11: 18284155-18284155 on Build GRCh38
rs763218119 Chr.11: 18283866-18283866 on Build GRCh38
rs965039108 Chr.11: 18284168-18284168 on Build GRCh38
rs928885248 Chr.11: 18283837-18283837 on Build GRCh38
rs373476665 Chr.11: 18283911-18283911 on Build GRCh38
rs532148021 Chr.11: 18283871-18283871 on Build GRCh38
rs943995798 Chr.11: 18284173-18284173 on Build GRCh38
rs533903472 Chr.11: 18284034-18284034 on Build GRCh38
rs767601081 Chr.11: 18283848-18283848 on Build GRCh38
rs1027155433 Chr.11: 18284168-18284168 on Build GRCh38
rs988164401 Chr.11: 18284103-18284103 on Build GRCh38
rs983241371 Chr.11: 18284172-18284173 on Build GRCh38
rs983849331 Chr.11: 18284179-18284179 on Build GRCh38
rs373381678 Chr.11: 18284113-18284113 on Build GRCh38
rs770506838 Chr.11: 18283768-18283768 on Build GRCh38
rs762130841 Chr.11: 18283818-18283818 on Build GRCh38
rs571887814 Chr.11: 18284069-18284069 on Build GRCh38
rs2049129 Chr.11: 18283786-18283786 on Build GRCh38
rs886914126 Chr.11: 18283927-18283927 on Build GRCh38
rs778863070 Chr.11: 18283853-18283855 on Build GRCh38
rs376985261 Chr.11: 18283840-18283840 on Build GRCh38
rs778515774 Chr.11: 18283905-18283905 on Build GRCh38
rs369298388 Chr.11: 18284135-18284135 on Build GRCh38
rs191180428 Chr.11: 18284076-18284076 on Build GRCh38
rs769139172 Chr.11: 18283943-18283943 on Build GRCh38
rs186698024 Chr.11: 18283947-18283947 on Build GRCh38
rs558657091 Chr.11: 18284061-18284061 on Build GRCh38
rs920903500 Chr.11: 18284177-18284177 on Build GRCh38
rs76389639 Chr.11: 18284174-18284174 on Build GRCh38
rs768701684 Chr.11: 18283781-18283781 on Build GRCh38
rs377526569 Chr.11: 18283915-18283915 on Build GRCh38
rs893679054 Chr.11: 18284023-18284023 on Build GRCh38
rs886041723 Chr.11: 18283871-18283874 on Build GRCh38
rs908641823 Chr.11: 18284172-18284172 on Build GRCh38
rs547918739 Chr.11: 18283990-18283990 on Build GRCh38

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