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 | 1225 | NP_001304160.1 |
NM_001317232.1 | 12 | 1198 | NP_001304161.1 | |
NM_001317233.1 | 12 | 1167 | NP_001304162.1 | |
NM_014342.3 | 13 | 1225 | NP_055157.1 | |
XM_006718172.2 | 12 | 1100 | 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 | 1120 | XP_016872951.1 | |
XM_017017463.1 | 13 | 1144 | XP_016872952.1 | |
AF085361.1 | AAD40196.1 | |||
AF176008.1 | AAD52646.1 | |||
AK223097.1 | 13 | 1048 | BAD96817.1 | |
AK295218.1 | 12 | 1047 | ||
AY380792.1 | 13 | 1083 | AAQ88168.1 | |
BC000875.1 | AAH00875.1 |
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 | CELF1 PTPMT1 KBTBD4 FAM180B C1QTNF4 AGBL2 MTCH2 NDUFS3 |
nsv509405 | Chr.11:47571038 - 47663104 on Build GRCh38 | Insertion | PTPMT1 KBTBD4 FAM180B C1QTNF4 AGBL2 MTCH2 NDUFS3 |
nsv825872 | Chr.11:47543873 - 47638778 on Build GRCh38 | Gain | CELF1 PTPMT1 KBTBD4 FAM180B C1QTNF4 MTCH2 NDUFS3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |