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: |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HPS1 |
Target Gene Details
Entrez Gene ID: | 84795 |
Gene Name: | pyridine nucleotide-disulphide oxidoreductase domain 2 |
Gene Aliases: |
C10orf33, FP3420 |
Location: |
Chr.10:98383565-98415221 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 1 - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PYROXD2 | NM_032709.2 | NP_116098.2 | ||
XM_011540293.2 | XP_011538595.1 | |||
XM_017016835.1 | XP_016872324.1 | |||
XM_017016836.1 | XP_016872325.1 | |||
XM_017016837.1 | XP_016872326.1 | |||
AK074429.1 | ||||
AK075265.1 | BAC11507.1 | |||
AK225637.1 | ||||
AK295699.1 | ||||
BC006131.1 | AAH06131.1 | |||
DC361966.1 |
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 | PYROXD2 HPS1 LOC101927278 MIR4685 |
nsv515723 | Chr.10:98388419 - 98435072 on Build GRCh38 | Loss | MIR1287 PYROXD2 HPS1 MIR4685 |
nsv831955 | Chr.10:98402137 - 98592058 on Build GRCh38 | Gain | HPSE2 PYROXD2 HPS1 LOC101927278 MIR4685 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |