Assay Details
Target Gene Details
Entrez Gene ID: | 23788 |
Gene Name: | mitochondrial carrier 2 |
Gene Aliases: |
HSPC032, MIMP, SLC25A50 |
Location: |
Chr.11:47604309-47642654 on Build GRCh38 |
Assay Gene Location: | Within Exon 14 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MTCH2 | XM_011519959.2 | 13 | 1071 | XP_011518261.1 |
XM_011519960.2 | 12 | 1091 | XP_011518262.1 | |
XM_011519961.2 | 12 | 1003 | XP_011518263.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv832142 | Chr.11:47496403 - 47659758 on Build GRCh38 | Loss | PTPMT1 FAM180B KBTBD4 MTCH2 NDUFS3 AGBL2 C1QTNF4 CELF1 |
nsv509405 | Chr.11:47571038 - 47663104 on Build GRCh38 | Insertion | PTPMT1 FAM180B KBTBD4 MTCH2 NDUFS3 AGBL2 C1QTNF4 |
nsv825872 | Chr.11:47543873 - 47638778 on Build GRCh38 | Gain | PTPMT1 FAM180B KBTBD4 MTCH2 NDUFS3 C1QTNF4 CELF1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |