Product Details

Primer Sequences
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Primer Chromosome Location
Chr.3: 149145236-149145768 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
HPS3
Entrez Gene ID
84343
Gene Name
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
Gene Aliases
BLOC2S1, SUTAL
UniGene
Hs.558314
Gene Chromosome Location
Chr.3: 149129584-149173196 on Build GRCh38
Transcripts
NM_001308258.1 NM_032383.4 XM_005247834.3 XM_017007323.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
4691080 c.1052T>C p.V351A Chr.3: 149145435-149145435 on Build GRCh38
334506 c.1003C>T p.Q335* Chr.3: 149145386-149145386 on Build GRCh38
4436861 c.996T>A p.N332K Chr.3: 149145379-149145379 on Build GRCh38
7332515 c.1136C>T p.T379M Chr.3: 149145519-149145519 on Build GRCh38
334507 c.1041C>T p.S347S Chr.3: 149145424-149145424 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs377101013 Chr.3: 149145556-149145556 on Build GRCh38
rs770304143 Chr.3: 149145428-149145428 on Build GRCh38
rs201227603 Chr.3: 149145547-149145547 on Build GRCh38
rs373995447 Chr.3: 149145526-149145526 on Build GRCh38
rs757079213 Chr.3: 149145368-149145368 on Build GRCh38
rs758549653 Chr.3: 149145380-149145380 on Build GRCh38
rs1017297784 Chr.3: 149145654-149145654 on Build GRCh38
rs113381494 Chr.3: 149145535-149145535 on Build GRCh38
rs771822133 Chr.3: 149145441-149145441 on Build GRCh38
rs776056267 Chr.3: 149145549-149145549 on Build GRCh38
rs1010120909 Chr.3: 149145370-149145370 on Build GRCh38
rs368134155 Chr.3: 149145697-149145697 on Build GRCh38
rs778630258 Chr.3: 149145378-149145378 on Build GRCh38
rs761311790 Chr.3: 149145553-149145553 on Build GRCh38
rs763305108 Chr.3: 149145377-149145378 on Build GRCh38
rs761685684 Chr.3: 149145490-149145490 on Build GRCh38
rs774178297 Chr.3: 149145348-149145348 on Build GRCh38
rs539727893 Chr.3: 149145286-149145286 on Build GRCh38
rs781079008 Chr.3: 149145523-149145523 on Build GRCh38
rs776883707 Chr.3: 149145709-149145709 on Build GRCh38
rs180754391 Chr.3: 149145389-149145389 on Build GRCh38
rs781425767 Chr.3: 149145589-149145589 on Build GRCh38
rs149620802 Chr.3: 149145519-149145519 on Build GRCh38
rs774985673 Chr.3: 149145470-149145470 on Build GRCh38
rs966713954 Chr.3: 149145414-149145414 on Build GRCh38
rs765665929 Chr.3: 149145324-149145324 on Build GRCh38
rs777231166 Chr.3: 149145421-149145421 on Build GRCh38
rs768593961 Chr.3: 149145417-149145417 on Build GRCh38
rs966089946 Chr.3: 149145658-149145658 on Build GRCh38
rs74408295 Chr.3: 149145311-149145311 on Build GRCh38
rs1005049091 Chr.3: 149145364-149145365 on Build GRCh38
rs776988796 Chr.3: 149145321-149145321 on Build GRCh38
rs765025074 Chr.3: 149145491-149145491 on Build GRCh38
rs762843434 Chr.3: 149145562-149145562 on Build GRCh38
rs761987540 Chr.3: 149145733-149145733 on Build GRCh38
rs771171459 Chr.3: 149145542-149145542 on Build GRCh38
rs763472428 Chr.3: 149145480-149145480 on Build GRCh38
rs900372533 Chr.3: 149145284-149145284 on Build GRCh38
rs753796386 Chr.3: 149145487-149145487 on Build GRCh38
rs959565384 Chr.3: 149145472-149145472 on Build GRCh38
rs533475678 Chr.3: 149145568-149145568 on Build GRCh38
rs575233683 Chr.3: 149145339-149145339 on Build GRCh38
rs910184411 Chr.3: 149145326-149145326 on Build GRCh38
rs367816094 Chr.3: 149145508-149145508 on Build GRCh38
rs564325872 Chr.3: 149145560-149145560 on Build GRCh38
rs959450607 Chr.3: 149145729-149145729 on Build GRCh38
rs11718908 Chr.3: 149145364-149145364 on Build GRCh38
rs749726836 Chr.3: 149145536-149145536 on Build GRCh38
rs748621350 Chr.3: 149145426-149145426 on Build GRCh38
rs767145551 Chr.3: 149145357-149145357 on Build GRCh38
rs776560190 Chr.3: 149145371-149145371 on Build GRCh38
rs1041619975 Chr.3: 149145612-149145612 on Build GRCh38
rs575943583 Chr.3: 149145363-149145363 on Build GRCh38
rs571780487 Chr.3: 149145520-149145520 on Build GRCh38
rs766484997 Chr.3: 149145551-149145551 on Build GRCh38
rs768688204 Chr.3: 149145634-149145634 on Build GRCh38
rs748957888 Chr.3: 149145267-149145267 on Build GRCh38
rs146057480 Chr.3: 149145591-149145591 on Build GRCh38
rs541242212 Chr.3: 149145544-149145544 on Build GRCh38
rs374685364 Chr.3: 149145498-149145498 on Build GRCh38
rs185367412 Chr.3: 149145659-149145659 on Build GRCh38
rs780137466 Chr.3: 149145385-149145385 on Build GRCh38
rs759266104 Chr.3: 149145438-149145438 on Build GRCh38
rs773653443 Chr.3: 149145437-149145437 on Build GRCh38
rs566197622 Chr.3: 149145711-149145711 on Build GRCh38
rs201907977 Chr.3: 149145587-149145587 on Build GRCh38
rs941581965 Chr.3: 149145434-149145434 on Build GRCh38
rs11715291 Chr.3: 149145608-149145608 on Build GRCh38
rs771265306 Chr.3: 149145274-149145274 on Build GRCh38
rs138254267 Chr.3: 149145405-149145405 on Build GRCh38
rs751825965 Chr.3: 149145585-149145585 on Build GRCh38
rs747203465 Chr.3: 149145396-149145396 on Build GRCh38
rs750288537 Chr.3: 149145497-149145497 on Build GRCh38
rs915163467 Chr.3: 149145261-149145261 on Build GRCh38
rs764037488 Chr.3: 149145305-149145308 on Build GRCh38

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