Assay Details
Target Gene Details
Entrez Gene ID: | 115416 |
Gene Name: | mitochondrial assembly of ribosomal large subunit 1 |
Gene Aliases: |
C7orf30, mtRsfA |
Location: |
Chr.7:23298744-23309573 on Build GRCh38 |
Assay Gene Location: | Within Intron 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MALSU1 | NM_138446.1 | NP_612455.1 | ||
XM_017011731.1 | XP_016867220.1 | |||
AK127742.1 | ||||
AK316559.1 | ||||
BC012331.1 | AAH12331.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv606410 | Chr.7:23293751 - 23343516 on Build GRCh38 | Loss | IGF2BP3 MALSU1 |
nsv1016316 | Chr.7:23221900 - 23318018 on Build GRCh38 | Gain | IGF2BP3 LOC101927890 MALSU1 GPNMB |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |