Assay Details
Target Gene Details
Entrez Gene ID: | 3257 |
Gene Name: | HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 |
Gene Aliases: |
BLOC3S1, HPS |
Location: |
Chr.10:98415068-98446963 on Build GRCh38 |
Assay Gene Location: | Within Exon 21 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HPS1 | NM_000195.4 | 20 | 2967 | NP_000186.2 |
NM_001311345.1 | 19 | 2920 | NP_001298274.1 | |
NM_001322476.1 | 20 | 2896 | NP_001309405.1 | |
NM_001322477.1 | 20 | 2976 | NP_001309406.1 | |
NM_001322478.1 | 19 | 2797 | NP_001309407.1 | |
NM_001322479.1 | 19 | 2877 | NP_001309408.1 | |
NM_001322480.1 | 18 | 2635 | NP_001309409.1 | |
NM_001322481.1 | 18 | 2715 | NP_001309410.1 | |
NM_001322482.1 | 17 | 2616 | NP_001309411.1 | |
NM_001322483.1 | 19 | 2753 | NP_001309412.1 | |
NM_001322484.1 | 19 | 2833 | NP_001309413.1 | |
NM_001322485.1 | 18 | 2725 | NP_001309414.1 | |
NM_001322487.1 | 20 | 3019 | NP_001309416.1 | |
NM_001322489.1 | 18 | 2777 | NP_001309418.1 | |
XM_017016170.1 | 17 | 2523 | XP_016871659.1 | |
XM_017016171.1 | 18 | 2730 | XP_016871660.1 | |
XM_017016172.1 | 17 | 2541 | XP_016871661.1 | |
U65676.1 | 20 | 2911 | AAB17869.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv524427 | Chr.10:98408615 - 98452617 on Build GRCh38 | Loss | HPS1 LOC101927278 MIR4685 PYROXD2 |
nsv515723 | Chr.10:98388419 - 98435072 on Build GRCh38 | Loss | HPS1 MIR1287 MIR4685 PYROXD2 |
nsv831955 | Chr.10:98402137 - 98592058 on Build GRCh38 | Gain | HPS1 LOC101927278 MIR4685 PYROXD2 HPSE2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |