Assay Details
Target Gene Details
Entrez Gene ID: | 4528 |
Gene Name: | mitochondrial translational initiation factor 2 |
Gene Aliases: |
- |
Location: |
Chr.2:55235583-55269311 on Build GRCh38 |
Assay Gene Location: | Within Exon 18 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MTIF2 | XM_005264335.3 | 14 | 3247 | XP_005264392.1 |
XM_011532871.2 | 15 | 3281 | XP_011531173.1 | |
XM_017004162.1 | 17 | 3577 | XP_016859651.1 | |
XM_017004163.1 | 16 | 3653 | XP_016859652.1 | |
XM_017004164.1 | 15 | 3265 | XP_016859653.1 | |
XM_017004165.1 | 16 | 3480 | XP_016859654.1 | |
XM_017004166.1 | 16 | 3672 | XP_016859655.1 | |
XM_017004167.1 | 12 | 3749 | XP_016859656.1 |
Target Gene Details
Entrez Gene ID: | 6233 |
Gene Name: | ribosomal protein S27a |
Gene Aliases: |
CEP80, HEL112, S27A, UBA80, UBC, UBCEP1, UBCEP80 |
Location: |
Chr.2:55231903-55235853 on Build GRCh38 |
Assay Gene Location: | Within Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RPS27A | NM_001135592.2 | 6 | 817 | NP_001129064.1 |
NM_001177413.1 | 5 | 741 | NP_001170884.1 | |
NM_002954.5 | 6 | 915 | NP_002945.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2720078 | Chr.2:53962225 - 55281329 on Build GRCh38 | Deletion | TSPYL6 RTN4 RPL23AP32 CLHC1 RPS27A SPTBN1 C2orf73 ACYP2 EML6 PSME4 MTIF2 |
nsv961777 | Chr.2:55234840 - 55236211 on Build GRCh38 | Duplication | RPS27A MTIF2 |
nsv522016 | Chr.2:55177658 - 55333162 on Build GRCh38 | Gain | PRORSD1P CLHC1 CCDC88A RPS27A MTIF2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |