Assay Details
Target Gene Details
Entrez Gene ID: | 2997 |
Gene Name: | glycogen synthase 1 |
Gene Aliases: |
GSY, GYS |
Location: |
Chr.19:48968125-48993353 on Build GRCh38 |
Assay Gene Location: | Within Exon 16 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GYS1 | NM_001161587.1 | 15 | 2830 | NP_001155059.1 |
NM_002103.4 | 16 | 3022 | NP_002094.2 | |
NR_027763.1 | 15 | 2840 | ||
AK291672.1 | ||||
BC002617.2 | 16 | 2961 | AAH02617.1 | |
BC003182.1 | 15 | 2787 | AAH03182.1 | |
BC007688.2 | 16 | 2948 | AAH07688.1 | |
J04501.1 | 16 | 2941 | AAA88046.1 | |
U32573.1 | 16 | 2920 | AAB60385.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv9739 | Chr.19:47901840 - 50143063 on Build GRCh38 | Gain+Loss | C19orf68 PPP1R15A RASIP1 ZNF114 GRIN2D HSD17B14 TRPM4 SEC1P LMTK3 ZNF473 BAX EMP3 SNAR-A3 TMEM143 RUVBL2 SNAR-A8 SNAR-C1 SNAR-B1 FUZ LOC105447645 GFY PPFIA3 SLC6A16 HRC MIR6798 MIR6800 TSKS FLT3LG SNAR-C2 NTN5 DKKL1 NTF4 FUT2 SYNGR4 KCNA7 FCGRT NUCB1-AS1 BCAT2 SNORD35A SNAR-A11 CGB1 CA11 BCL2L12 GRWD1 PTOV1-AS2 PRMT1 ATF5 SNRNP70 SNAR-A1 FGF21 CARD8 TEAD2 SNAR-A2 MIR150 SNAR-A7 BSPH1 DHDH CCDC114 CYTH2 ELSPBP1 SNORD32A TBC1D17 LOC101059948 SCAF1 C19orf73 FAM83E LIG1 SNAR-G1 PRR12 SNAR-B2 SNAR-A10 IL4I1 SNAR-A5 CGB5 FTL CGB2 LOC101928295 CPT1C LHB SNORD33 NUP62 PLA2G4C PLA2G4C-AS1 SNAR-A4 PTOV1-AS1 AKT1S1 CD37 NUCB1 ADM5 LOC100287477 SNAR-A9 MIR4750 CGB7 SNAR-G2 SNAR-D RCN3 SIGLEC16 SNAR-A14 SNORD34 LIN7B PTOV1 DBP RRAS GYS1 SNAR-A13 MIR5088 SNAR-A12 SPACA4 MED25 PRRG2 FUT1 SNAR-C3 IZUMO1 MIR4749 MAMSTR CCDC155 PLEKHA4 SULT2B1 MIR4324 SNAR-A6 VRK3 MIR6799 MIR4751 SNAR-C5 NOSIP KDELR1 CGB8 PNKP AP2A1 ALDH16A1 CGB3 PTH2 IRF3 TULP2 LOC105372430 CARD8-AS1 SPHK2 SIGLEC11 RPS11 SNAR-C4 RPL13A SNORD35B RPL18 FLJ26850 SLC17A7 CABP5 PIH1D1 KCNJ14 |
dgv3618n100 | Chr.19:48948950 - 49021211 on Build GRCh38 | Gain | MIR6798 RUVBL2 LOC101059948 GYS1 LHB BAX FTL |
nsv833857 | Chr.19:48914476 - 49146320 on Build GRCh38 | Loss | CGB1 SNAR-G1 CGB3 SNRNP70 PPFIA3 NUCB1 GYS1 BAX CGB7 CGB5 FTL DHDH MIR6798 CGB8 CGB2 SNAR-G2 RUVBL2 NTF4 LOC101059948 KCNA7 C19orf73 NUCB1-AS1 LHB LIN7B |
nsv953598 | Chr.19:48957644 - 49085143 on Build GRCh38 | Deletion | CGB1 SNAR-G1 CGB3 SNRNP70 GYS1 BAX CGB7 CGB5 FTL MIR6798 CGB8 CGB2 SNAR-G2 RUVBL2 NTF4 LOC101059948 KCNA7 LHB |
nsv833856 | Chr.19:48847866 - 48986483 on Build GRCh38 | Loss | DHDH PPP1R15A PLEKHA4 NUCB1 TULP2 NUCB1-AS1 GYS1 BAX FTL |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |