Assay Details
Target Gene Details
Entrez Gene ID: | 55699 |
Gene Name: | isoleucyl-tRNA synthetase 2, mitochondrial |
Gene Aliases: |
CAGSSS, ILERS |
Location: |
Chr.1:220094113-220148041 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| IARS2 | NM_018060.3 | 2 | 432 | NP_060530.3 |
| AK291432.1 | 2 | 241 | ||
| AY267462.1 | 2 | 443 | ||
| AY952883.1 | 2 | 345 | ||
| BC040376.1 | 2 | 165 | ||
| BC137438.1 | 2 | 402 | ||
| BI459732.1 | 2 | 436 | ||
| BM149097.1 | 2 | 433 | ||
| D28500.1 | 2 | 273 | BAA95147.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv832636 | Chr.1:219966355 - 220121010 on Build GRCh38 | Loss |
|
More Information
Set Membership: |
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Genomic Map