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 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HPS5 | NM_007216.3 | 11 | 1539 | NP_009147.3 |
NM_181507.1 | 12 | 1696 | NP_852608.1 | |
NM_181508.1 | 11 | 1352 | NP_852609.1 | |
XM_011519862.1 | 12 | 1687 | XP_011518164.1 | |
XM_011519863.1 | 12 | 1595 | XP_011518165.1 | |
XM_011519864.1 | 12 | 1527 | XP_011518166.1 | |
XM_011519865.1 | 11 | 1909 | XP_011518167.1 | |
XM_011519866.1 | 11 | 1560 | XP_011518168.1 | |
XM_011519867.1 | 11 | 1426 | XP_011518169.1 | |
XM_011519868.2 | 11 | 1667 | XP_011518170.1 | |
XM_017017149.1 | 12 | 1595 | XP_016872638.1 | |
XM_017017150.1 | 12 | 1527 | XP_016872639.1 | |
XM_017017151.1 | 11 | 1745 | XP_016872640.1 | |
XM_017017152.1 | 11 | 1909 | XP_016872641.1 | |
XM_017017153.1 | 11 | 1745 | XP_016872642.1 | |
XM_017017154.1 | 11 | 1426 | XP_016872643.1 | |
AB023234.1 | 11 | 1352 | ||
AF534400.1 | 11 | 1352 | AAO25962.1 | |
AF534401.1 | 12 | 1696 | AAO25963.1 | |
AF534402.1 | 11 | 1539 | AAO25964.1 | |
AK291663.1 | 12 | 1662 | ||
AK292436.1 | 11 | 1505 | ||
BC033640.1 | 11 | 1500 | 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 | UEVLD LDHA SPTY2D1 HPS5 PTPN5 SPTY2D1-AS1 IGSF22 GTF2H1 MRGPRX1 LDHAL6A TMEM86A LDHC MIR3159 TSG101 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |