Assay Details
Target Gene Details
Entrez Gene ID: | 9863 |
Gene Name: | membrane associated guanylate kinase, WW and PDZ domain containing 2 |
Gene Aliases: |
ACVRIP1, AIP-1, AIP1, ARIP1, MAGI-2, SSCAM |
Location: |
Chr.7:78017055-79453805 on Build GRCh38 |
Assay Gene Location: | Within Intron 10 |
Target Gene Details
Entrez Gene ID: | 399670 |
Gene Name: | ribosomal protein L13a pseudogene 17 |
Gene Aliases: |
RPL13A_6_816 |
Location: |
Chr.7:78347242-78359458 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 5 - Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RPL13AP17 | NR_003680.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv607654 | Chr.7:77908647 - 78385012 on Build GRCh38 | Gain | RPL13AP17 LOC105375368 PHTF2 MAGI2 |
nsv1022764 | Chr.7:78281755 - 78687291 on Build GRCh38 | Loss | RPL13AP17 MAGI2 |
esv3613815 | Chr.7:78295321 - 78432746 on Build GRCh38 | Gain | RPL13AP17 MAGI2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |