Assay Details
Target Gene Details
Entrez Gene ID: | 2617 |
Gene Name: | glycyl-tRNA synthetase |
Gene Aliases: |
CMT2D, DSMAV, GlyRS, HMN5, SMAD1 |
Location: |
Chr.7:30594735-30634033 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 5 - Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GARS | NM_001316772.1 | NP_001303701.1 | ||
NM_002047.3 | NP_002038.2 | |||
XM_006715686.2 | XP_006715749.1 | |||
AK074524.1 | ||||
AK295490.1 | ||||
AK310351.1 | ||||
BC007722.2 | AAH07722.1 | |||
BC007755.2 | AAH07755.1 | |||
D30658.1 | BAA06338.1 | |||
U09510.1 | AAA86443.1 | |||
U09587.1 | AAA57001.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1024458 | Chr.7:30562261 - 30610043 on Build GRCh38 | Loss | GARS LOC401320 |
nsv436557 | Chr.7:30288062 - 32730902 on Build GRCh38 | Deletion | MIR550A1 GGCT ZNRF2P1 GHRHR AVL9 MIR550B1 CCDC129 LINC01176 LOC100130673 PPP1R17 LOC101928268 PDE1C LOC401320 LSM5 DKFZP586I1420 INMT-FAM188B GARS ZNRF2 FAM188B CRHR2 INMT ADCYAP1R1 AQP1 NOD1 DPY19L1P1 NEUROD6 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |