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 | 2437 | NP_000186.2 |
NM_001311345.1 | 19 | 2390 | NP_001298274.1 | |
NM_001322476.1 | 20 | 2366 | NP_001309405.1 | |
NM_001322477.1 | 20 | 2446 | NP_001309406.1 | |
NM_001322478.1 | 19 | 2267 | NP_001309407.1 | |
NM_001322479.1 | 19 | 2347 | NP_001309408.1 | |
NM_001322480.1 | 18 | 2105 | NP_001309409.1 | |
NM_001322481.1 | 18 | 2185 | NP_001309410.1 | |
NM_001322482.1 | 17 | 2086 | NP_001309411.1 | |
NM_001322483.1 | 19 | 2223 | NP_001309412.1 | |
NM_001322484.1 | 19 | 2303 | NP_001309413.1 | |
NM_001322485.1 | 18 | 2195 | NP_001309414.1 | |
NM_001322487.1 | 20 | 2489 | NP_001309416.1 | |
NM_001322489.1 | 18 | 2247 | NP_001309418.1 | |
XM_005269757.4 | 20 | 2379 | XP_005269814.1 | |
XM_017016170.1 | 17 | 1993 | XP_016871659.1 | |
XM_017016171.1 | 18 | 2200 | XP_016871660.1 | |
XM_017016172.1 | 17 | 2011 | XP_016871661.1 | |
AL833734.1 | 9 | 1089 | CAH56230.1 | |
U65676.1 | 20 | 2381 | 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 | MIR4685 HPS1 LOC101927278 PYROXD2 |
nsv515723 | Chr.10:98388419 - 98435072 on Build GRCh38 | Loss | MIR4685 HPS1 MIR1287 PYROXD2 |
nsv831955 | Chr.10:98402137 - 98592058 on Build GRCh38 | Gain | MIR4685 HPS1 LOC101927278 HPSE2 PYROXD2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |