Assay Details
Target Gene Details
Entrez Gene ID: | 6184 |
Gene Name: | ribophorin I |
Gene Aliases: |
OST1, RBPH1 |
Location: |
Chr.3:128619970-128650876 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RPN1 | NM_002950.3 | NP_002941.1 | ||
AK223595.1 | BAD97315.1 | |||
BC010839.1 | AAH10839.1 | |||
CR749284.1 | CAH18139.1 | |||
Y00281.1 | CAA68392.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv32649 | Chr.3:128611261 - 128619970 on Build GRCh38 | Gain | RPN1 |
esv2759176 | Chr.3:128338850 - 128718974 on Build GRCh38 | Loss | DNAJB8 EEFSEC LINC01565 GATA2-AS1 LOC90246 DNAJB8-AS1 GATA2 RPN1 |
nsv508952 | Chr.3:128612661 - 128681787 on Build GRCh38 | Insertion | RPN1 |
nsv10319 | Chr.3:128607714 - 128619989 on Build GRCh38 | Gain | RPN1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |