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: | Overlaps Intron 20 - Exon 21 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
AARS | NM_001605.2 | NP_001596.2 | ||
AK222824.1 | BAD96544.1 | |||
AK225116.1 | ||||
AK299098.1 | ||||
BC011451.1 | AAH11451.1 | |||
BU178772.1 | ||||
D32050.1 | 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 EXOSC6 LOC400541 SMG1P7 CLEC18C AARS LOC105371328 PDPR |
esv3638952 | Chr.16:70252544 - 70262994 on Build GRCh38 | Gain | AARS |
esv2758652 | Chr.16:69821219 - 70279319 on Build GRCh38 | Gain+Loss | PDXDC2P WWP2 LOC107984138 LOC400541 CLEC18A SMG1P7 CLEC18C AARS LOC105371328 PDPR EXOSC6 MIR1972-2 MIR140 |
nsv1061286 | Chr.16:70219906 - 70297504 on Build GRCh38 | Gain | LOC107984138 EXOSC6 DDX19B SMG1P7 AARS |
nsv428328 | Chr.16:69952660 - 70279319 on Build GRCh38 | Gain+Loss | PDXDC2P LOC107984138 EXOSC6 LOC400541 CLEC18A SMG1P7 MIR1972-2 CLEC18C AARS LOC105371328 PDPR |
nsv833271 | Chr.16:70151791 - 70319431 on Build GRCh38 | Gain+Loss | LOC107984138 EXOSC6 DDX19B LOC400541 LOC100506083 SMG1P7 CLEC18C AARS LOC105371328 PDPR |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |