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: | Within Intron 4 |
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 | LOC401320 GARS |
nsv436557 | Chr.7:30288062 - 32730902 on Build GRCh38 | Deletion | ZNRF2 DPY19L1P1 ZNRF2P1 DKFZP586I1420 LOC100130673 FAM188B MIR550B1 LOC101928268 AVL9 NOD1 LOC401320 GGCT INMT NEUROD6 AQP1 ADCYAP1R1 MIR550A1 CCDC129 INMT-FAM188B LINC01176 GARS PPP1R17 LSM5 GHRHR CRHR2 PDE1C |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |