Product Details

Primer Sequences
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Primer Chromosome Location
Chr.3: 149145491-149145716 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
6544939 c.1150C>T p.H384Y Chr.3: 149145533-149145533 on Build GRCh38
4965305 c.1137G>A p.T379T Chr.3: 149145520-149145520 on Build GRCh38
7332515 c.1136C>T p.T379M Chr.3: 149145519-149145519 on Build GRCh38
1308706 c.1134C>T p.L378L Chr.3: 149145517-149145517 on Build GRCh38

SNP Detail

SNP ID Chromosome Location
rs377101013 Chr.3: 149145556-149145556 on Build GRCh38
rs201227603 Chr.3: 149145547-149145547 on Build GRCh38
rs373995447 Chr.3: 149145526-149145526 on Build GRCh38
rs533475678 Chr.3: 149145568-149145568 on Build GRCh38
rs1017297784 Chr.3: 149145654-149145654 on Build GRCh38
rs113381494 Chr.3: 149145535-149145535 on Build GRCh38
rs776056267 Chr.3: 149145549-149145549 on Build GRCh38
rs564325872 Chr.3: 149145560-149145560 on Build GRCh38
rs749726836 Chr.3: 149145536-149145536 on Build GRCh38
rs761311790 Chr.3: 149145553-149145553 on Build GRCh38
rs1041619975 Chr.3: 149145612-149145612 on Build GRCh38
rs571780487 Chr.3: 149145520-149145520 on Build GRCh38
rs781079008 Chr.3: 149145523-149145523 on Build GRCh38
rs766484997 Chr.3: 149145551-149145551 on Build GRCh38
rs768688204 Chr.3: 149145634-149145634 on Build GRCh38
rs781425767 Chr.3: 149145589-149145589 on Build GRCh38
rs146057480 Chr.3: 149145591-149145591 on Build GRCh38
rs541242212 Chr.3: 149145544-149145544 on Build GRCh38
rs149620802 Chr.3: 149145519-149145519 on Build GRCh38
rs185367412 Chr.3: 149145659-149145659 on Build GRCh38
rs201907977 Chr.3: 149145587-149145587 on Build GRCh38
rs966089946 Chr.3: 149145658-149145658 on Build GRCh38
rs11715291 Chr.3: 149145608-149145608 on Build GRCh38
rs751825965 Chr.3: 149145585-149145585 on Build GRCh38
rs762843434 Chr.3: 149145562-149145562 on Build GRCh38
rs771171459 Chr.3: 149145542-149145542 on Build GRCh38

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