Assay Details
Target Gene Details
Entrez Gene ID: | 345062 |
Gene Name: | protease, serine 48 |
Gene Aliases: |
ESSPL |
Location: |
Chr.4:151276482-151291856 on Build GRCh38 |
Assay Gene Location: | Within Exon 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PRSS48 | NM_183375.2 | 5 | 807 | NP_899231.2 |
XM_011531921.2 | 4 | 1253 | XP_011530223.1 | |
XM_011531922.2 | 3 | 1069 | XP_011530224.1 | |
BC121109.1 | 5 | 811 | ||
BC121110.1 | 3 | 382 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1028814 | Chr.4:150874356 - 152285445 on Build GRCh38 | Gain | GATB LOC100996286 SNORD73A RPS3A SH3D19 LRBA FAM160A1 LOC100505685 PRSS48 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |