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 | 3204 | NP_000186.2 |
NM_001311345.1 | 19 | 3157 | NP_001298274.1 | |
NM_001322476.1 | 20 | 3133 | NP_001309405.1 | |
NM_001322477.1 | 20 | 3213 | NP_001309406.1 | |
NM_001322478.1 | 19 | 3034 | NP_001309407.1 | |
NM_001322479.1 | 19 | 3114 | NP_001309408.1 | |
NM_001322480.1 | 18 | 2872 | NP_001309409.1 | |
NM_001322481.1 | 18 | 2952 | NP_001309410.1 | |
NM_001322482.1 | 17 | 2853 | NP_001309411.1 | |
NM_001322483.1 | 19 | 2990 | NP_001309412.1 | |
NM_001322484.1 | 19 | 3070 | NP_001309413.1 | |
NM_001322485.1 | 18 | 2962 | NP_001309414.1 | |
NM_001322487.1 | 20 | 3256 | NP_001309416.1 | |
NM_001322489.1 | 18 | 3014 | NP_001309418.1 | |
XM_017016170.1 | 17 | 2760 | XP_016871659.1 | |
XM_017016171.1 | 18 | 2967 | XP_016871660.1 | |
XM_017016172.1 | 17 | 2778 | XP_016871661.1 | |
U65676.1 | 20 | 3148 | 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 MIR4685 PYROXD2 LOC101927278 |
nsv515723 | Chr.10:98388419 - 98435072 on Build GRCh38 | Loss | HPS1 MIR4685 MIR1287 PYROXD2 |
nsv831955 | Chr.10:98402137 - 98592058 on Build GRCh38 | Gain | HPSE2 HPS1 MIR4685 PYROXD2 LOC101927278 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |