Assay Details
Target Gene Details
Entrez Gene ID: | 831 |
Gene Name: | calpastatin |
Gene Aliases: |
BS-17, PLACK |
Location: |
Chr.5:96662037-96774683 on Build GRCh38 |
Assay Gene Location: | Within Intron 28 |
Target Gene Details
Entrez Gene ID: | 51752 |
Gene Name: | endoplasmic reticulum aminopeptidase 1 |
Gene Aliases: |
A-LAP, ALAP, APPILS, ARTS-1, ARTS1, ERAAP, ERAAP1, PILS-AP, PILSAP |
Location: |
Chr.5:96759245-96935983 on Build GRCh38 |
Assay Gene Location: | Within Exon 28 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ERAP1 | XM_017009582.1 | 20 | 6054 | XP_016865071.1 |
AB011097.2 | 19 | 5993 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv598963 | Chr.5:96749072 - 97027703 on Build GRCh38 | Gain | LNPEP ERAP2 LOC101929747 ERAP1 CAST |
nsv830411 | Chr.5:96709464 - 96852114 on Build GRCh38 | Loss | ERAP1 CAST |
nsv598962 | Chr.5:96722187 - 97557460 on Build GRCh38 | Gain | RIOK2 LNPEP LIX1 ERAP2 LOC101929747 LINC01340 ERAP1 CAST |
nsv516293 | Chr.5:96734501 - 96880683 on Build GRCh38 | Gain+Loss | ERAP2 ERAP1 CAST |
nsv1021263 | Chr.5:96060753 - 97448132 on Build GRCh38 | Loss | RIOK2 LNPEP LIX1 ERAP2 LOC101929747 LOC101929710 MIR583 PCSK1 ERAP1 CAST |
nsv1028741 | Chr.5:96746697 - 97036461 on Build GRCh38 | Gain | LNPEP ERAP2 LOC101929747 ERAP1 CAST |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |