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 13 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MTCH2 | NM_001317231.1 | 13 | 2085 | NP_001304160.1 |
NM_001317232.1 | 12 | 2058 | NP_001304161.1 | |
NM_001317233.1 | 12 | 2027 | NP_001304162.1 | |
NM_014342.3 | 13 | 2085 | NP_055157.1 | |
XM_006718172.2 | 12 | 1960 | XP_006718235.1 | |
XM_011519959.2 | XP_011518261.1 | |||
XM_011519960.2 | XP_011518262.1 | |||
XM_011519961.2 | XP_011518263.1 | |||
XM_017017462.1 | 11 | 1980 | XP_016872951.1 | |
XM_017017463.1 | 13 | 2004 | XP_016872952.1 | |
AK223097.1 | 13 | 1908 | BAD96817.1 | |
AY380792.1 | 13 | 1943 | AAQ88168.1 |
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 | KBTBD4 PTPMT1 NDUFS3 C1QTNF4 AGBL2 MTCH2 FAM180B CELF1 |
nsv509405 | Chr.11:47571038 - 47663104 on Build GRCh38 | Insertion | KBTBD4 PTPMT1 NDUFS3 C1QTNF4 AGBL2 MTCH2 FAM180B |
nsv825872 | Chr.11:47543873 - 47638778 on Build GRCh38 | Gain | KBTBD4 PTPMT1 NDUFS3 C1QTNF4 MTCH2 FAM180B CELF1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |