Assay Details
Target Gene Details
Entrez Gene ID: | 16 |
Gene Name: | alanyl-tRNA synthetase |
Gene Aliases: |
CMT2N, EIEE29 |
Location: |
Chr.16:70252295-70289552 on Build GRCh38 |
Assay Gene Location: | Within Exon 17 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
AARS | NM_001605.2 | 17 | 2458 | NP_001596.2 |
AK222824.1 | 17 | 2455 | BAD96544.1 | |
AK225116.1 | ||||
AK299098.1 | 17 | 2458 | ||
BC011451.1 | 17 | 2390 | AAH11451.1 | |
D32050.1 | 17 | 2458 | BAA06808.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv33745 | Chr.16:70082696 - 70285970 on Build GRCh38 | Gain+Loss | LOC107984138 CLEC18C LOC105371328 SMG1P7 EXOSC6 LOC400541 PDPR AARS |
esv3638952 | Chr.16:70252544 - 70262994 on Build GRCh38 | Gain | AARS |
esv2758652 | Chr.16:69821219 - 70279319 on Build GRCh38 | Gain+Loss | LOC107984138 CLEC18C LOC105371328 WWP2 LOC400541 PDXDC2P MIR1972-2 SMG1P7 EXOSC6 MIR140 PDPR AARS CLEC18A |
nsv1061286 | Chr.16:70219906 - 70297504 on Build GRCh38 | Gain | LOC107984138 SMG1P7 EXOSC6 DDX19B AARS |
nsv428328 | Chr.16:69952660 - 70279319 on Build GRCh38 | Gain+Loss | LOC107984138 CLEC18C LOC105371328 SMG1P7 EXOSC6 LOC400541 PDPR PDXDC2P MIR1972-2 AARS CLEC18A |
nsv833271 | Chr.16:70151791 - 70319431 on Build GRCh38 | Gain+Loss | LOC107984138 CLEC18C LOC105371328 SMG1P7 EXOSC6 LOC100506083 LOC400541 PDPR DDX19B AARS |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |