Assay Details
Target Gene Details
Entrez Gene ID: | 11234 |
Gene Name: | HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 |
Gene Aliases: |
AIBP63, BLOC2S2 |
Location: |
Chr.11:18278670-18322498 on Build GRCh38 |
Assay Gene Location: | Within Exon 16 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HPS5 | NM_007216.3 | 15 | 2093 | NP_009147.3 |
NM_181507.1 | 16 | 2250 | NP_852608.1 | |
NM_181508.1 | 15 | 1906 | NP_852609.1 | |
XM_011519862.1 | 16 | 2241 | XP_011518164.1 | |
XM_011519863.1 | 16 | 2149 | XP_011518165.1 | |
XM_011519864.1 | 16 | 2081 | XP_011518166.1 | |
XM_011519865.1 | 15 | 2463 | XP_011518167.1 | |
XM_011519866.1 | 15 | 2114 | XP_011518168.1 | |
XM_011519867.1 | 15 | 1980 | XP_011518169.1 | |
XM_011519868.2 | 15 | 2221 | XP_011518170.1 | |
XM_017017149.1 | 16 | 2149 | XP_016872638.1 | |
XM_017017150.1 | 16 | 2081 | XP_016872639.1 | |
XM_017017151.1 | 15 | 2299 | XP_016872640.1 | |
XM_017017152.1 | 15 | 2463 | XP_016872641.1 | |
XM_017017153.1 | 15 | 2299 | XP_016872642.1 | |
XM_017017154.1 | 15 | 1980 | XP_016872643.1 | |
AB023234.1 | 15 | 1906 | ||
AF534400.1 | 15 | 1906 | AAO25962.1 | |
AF534401.1 | 16 | 2250 | AAO25963.1 | |
AF534402.1 | 15 | 2093 | AAO25964.1 | |
AJ131721.1 | 4 | 424 | CAB38232.1 | |
AK024320.1 | ||||
AK291663.1 | 16 | 2216 | ||
AK292436.1 | 15 | 2059 | ||
BC033640.1 | 15 | 2054 | AAH33640.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv553633 | Chr.11:18290154 - 19036904 on Build GRCh38 | Gain |
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![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Set Membership: |
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Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)