Assay Details
Target Gene Details
Entrez Gene ID: | 57505 |
Gene Name: | alanyl-tRNA synthetase 2, mitochondrial |
Gene Aliases: |
AARSL, COXPD8, LKENP, MT-ALARS, MTALARS |
Location: |
Chr.6:44297850-44313358 on Build GRCh38 |
Assay Gene Location: | Within Exon 22 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
AARS2 | NM_020745.3 | 22 | 4423 | NP_065796.1 |
XM_005249245.3 | 20 | 4164 | XP_005249302.1 | |
XM_011514764.2 | XP_011513066.1 | |||
XM_017011112.1 | 20 | 4005 | XP_016866601.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv462936 | Chr.6:44224183 - 44314579 on Build GRCh38 | Loss | MIR4647 HSP90AB1 SLC35B2 AARS2 TCTE1 TMEM151B SLC29A1 NFKBIE |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |