Product Details

Primer Sequences
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Primer Chromosome Location
Chr.11: 18287632-18287883 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
5838276 c.2614C>T p.P872S Chr.11: 18287638-18287638 on Build GRCh38
6461690 c.2585C>T p.S862F Chr.11: 18287667-18287667 on Build GRCh38
4570314 c.2576T>G p.F859C Chr.11: 18287676-18287676 on Build GRCh38
5583612 c.2575T>C p.F859L Chr.11: 18287677-18287677 on Build GRCh38
1638795 c.2563T>C p.L855L Chr.11: 18287689-18287689 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs201917415 Chr.11: 18287848-18287848 on Build GRCh38
rs766459776 Chr.11: 18287740-18287740 on Build GRCh38
rs372380096 Chr.11: 18287699-18287699 on Build GRCh38
rs532068307 Chr.11: 18287766-18287766 on Build GRCh38
rs904712485 Chr.11: 18287825-18287825 on Build GRCh38
rs746667223 Chr.11: 18287662-18287662 on Build GRCh38
rs1013038009 Chr.11: 18287760-18287760 on Build GRCh38
rs764390566 Chr.11: 18287722-18287722 on Build GRCh38
rs763078010 Chr.11: 18287739-18287739 on Build GRCh38
rs1044471589 Chr.11: 18287805-18287805 on Build GRCh38
rs773584405 Chr.11: 18287714-18287714 on Build GRCh38
rs770370664 Chr.11: 18287711-18287711 on Build GRCh38
rs963479370 Chr.11: 18287831-18287831 on Build GRCh38
rs281865104 Chr.11: 18287659-18287659 on Build GRCh38
rs199999276 Chr.11: 18287704-18287704 on Build GRCh38
rs145010917 Chr.11: 18287685-18287685 on Build GRCh38
rs776445879 Chr.11: 18287676-18287676 on Build GRCh38

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