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 Intron 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GYS1 | NM_001161587.1 | NP_001155059.1 | ||
NM_002103.4 | NP_002094.2 | |||
NR_027763.1 | ||||
AK223579.1 | BAD97299.1 | |||
AK291672.1 | ||||
AK294349.1 | ||||
AK300369.1 | ||||
AK302738.1 | ||||
BC002617.2 | AAH02617.1 | |||
BC003182.1 | AAH03182.1 | |||
BC007688.2 | AAH07688.1 | |||
J04501.1 | AAA88046.1 | |||
U32573.1 | 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 | MIR5088 CGB7 CA11 ADM5 PTOV1 RPL18 SNAR-C2 SNAR-B2 GRIN2D SULT2B1 PTOV1-AS2 KCNA7 MIR4324 BCAT2 SNAR-C1 TULP2 PTOV1-AS1 SLC6A16 SNAR-A13 PLEKHA4 CGB3 PRRG2 LOC101059948 SNAR-A12 SNAR-C5 CGB2 MIR4751 CCDC114 SIGLEC11 CGB8 CABP5 IZUMO1 SNAR-A7 LOC105447645 CPT1C PPFIA3 MIR150 FCGRT PIH1D1 SNAR-G1 VRK3 MIR6800 C19orf73 RRAS LMTK3 NOSIP SNAR-A3 LOC101928295 BAX CCDC155 SNAR-A10 GFY SYNGR4 MIR4750 SNAR-A4 SLC17A7 SNAR-A6 TSKS FUT1 MIR6798 PRMT1 NTN5 BSPH1 TEAD2 MIR4749 SNAR-A8 SNAR-A2 SNORD35A BCL2L12 DHDH CARD8-AS1 SNAR-A5 TMEM143 SIGLEC16 SNRNP70 FAM83E NTF4 ZNF114 ATF5 FLT3LG SEC1P PTH2 TBC1D17 NUP62 EMP3 DBP RASIP1 SNORD34 LOC105372430 NUCB1 KCNJ14 LOC100287477 SNAR-A14 SPHK2 RPS11 PLA2G4C-AS1 MED25 SNORD35B CYTH2 SNAR-C4 SNORD33 CARD8 FLJ26850 SNORD32A SNAR-B1 HRC RPL13A FUZ SNAR-G2 SNAR-D SNAR-C3 FGF21 LIG1 SNAR-A11 DKKL1 SPACA4 LIN7B PRR12 SNAR-A9 C19orf68 HSD17B14 LHB CGB1 MAMSTR GYS1 CGB5 FTL IRF3 CD37 SNAR-A1 AKT1S1 KDELR1 AP2A1 TRPM4 RUVBL2 MIR6799 IL4I1 ELSPBP1 SCAF1 ZNF473 RCN3 GRWD1 PNKP PPP1R15A PLA2G4C NUCB1-AS1 FUT2 ALDH16A1 |
dgv3618n100 | Chr.19:48948950 - 49021211 on Build GRCh38 | Gain | LOC101059948 LHB GYS1 FTL RUVBL2 BAX MIR6798 |
nsv833857 | Chr.19:48914476 - 49146320 on Build GRCh38 | Loss | CGB7 PPFIA3 NUCB1 LOC101059948 DHDH RUVBL2 LIN7B MIR6798 SNAR-G1 KCNA7 CGB2 SNRNP70 C19orf73 NTF4 LHB CGB1 GYS1 NUCB1-AS1 CGB5 FTL CGB8 BAX SNAR-G2 CGB3 |
nsv953598 | Chr.19:48957644 - 49085143 on Build GRCh38 | Deletion | CGB7 LOC101059948 RUVBL2 MIR6798 SNAR-G1 KCNA7 CGB2 SNRNP70 NTF4 LHB CGB1 GYS1 CGB5 FTL CGB8 BAX SNAR-G2 CGB3 |
nsv833856 | Chr.19:48847866 - 48986483 on Build GRCh38 | Loss | NUCB1 PPP1R15A TULP2 GYS1 NUCB1-AS1 FTL DHDH BAX PLEKHA4 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |