Assay Details
Target Gene Details
Entrez Gene ID: | 57168 |
Gene Name: | aspartate beta-hydroxylase domain containing 2 |
Gene Aliases: |
- |
Location: |
Chr.22:26429314-26445012 on Build GRCh38 |
Assay Gene Location: | Within Exon 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ASPHD2 | NM_020437.4 | 4 | 2722 | NP_065170.2 |
AK097157.1 | 3 | 2067 | ||
AL161993.1 | 3 | 1778 | CAB82325.1 |
Target Gene Details
Entrez Gene ID: | 89781 |
Gene Name: | HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 |
Gene Aliases: |
BLOC3S2, LE |
Location: |
Chr.22:26443613-26483863 on Build GRCh38 |
Assay Gene Location: | Within Exon 18 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HPS4 | XM_011530492.1 | 16 | 3020 | XP_011528794.1 |
XM_017029045.1 | 15 | 2966 | XP_016884534.1 | |
XM_017029048.1 | 14 | 2888 | XP_016884537.1 | |
XM_017029049.1 | 14 | 2793 | XP_016884538.1 |
More Information
Set Membership: |
Intragenic Exonic non-DGV Variation |