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 29 |
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: | Overlaps Intron 27 - Exon 28 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ERAP1 | NM_016442.3 | NP_057526.3 | ||
XM_017009582.1 | XP_016865071.1 | |||
AB011097.2 | ||||
AY028806.1 | AAK37777.1 | |||
AY028807.1 | AAK37778.1 |
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 | ERAP1 LOC101929747 CAST LNPEP ERAP2 |
nsv830411 | Chr.5:96709464 - 96852114 on Build GRCh38 | Loss | ERAP1 CAST |
nsv598962 | Chr.5:96722187 - 97557460 on Build GRCh38 | Gain | ERAP1 RIOK2 LOC101929747 CAST LNPEP LINC01340 LIX1 ERAP2 |
nsv516293 | Chr.5:96734501 - 96880683 on Build GRCh38 | Gain+Loss | ERAP1 CAST ERAP2 |
nsv1021263 | Chr.5:96060753 - 97448132 on Build GRCh38 | Loss | ERAP1 RIOK2 LOC101929747 CAST LOC101929710 LNPEP LIX1 MIR583 PCSK1 ERAP2 |
nsv1028741 | Chr.5:96746697 - 97036461 on Build GRCh38 | Gain | ERAP1 LOC101929747 CAST LNPEP ERAP2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |