Hs01279588_cn

• Gene Symbol: GYS1
• Assay Reference Genome Location: Chr.19:48968388 on build GRCh38
• Cytoband: 19q13.33

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	3163	NP_001155059.1
	NM_002103.4	16	3355	NP_002094.2
	NR_027763.1	15	3173
	BC002617.2	16	3294	AAH02617.1
	BC003182.1	15	3120	AAH03182.1
	BC007688.2	16	3281	AAH07688.1
	J04501.1	16	3274	AAA88046.1
	U32573.1	16	3253	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	SYNGR4 LOC105447645 RPS11 PLA2G4C CPT1C SNORD35A IL4I1 FUT1 PPFIA3 GRWD1 SNAR-A5 SNAR-A9 NUCB1-AS1 PIH1D1 CGB2 FCGRT SNAR-A14 RCN3 TBC1D17 SEC1P LHB SNAR-A13 BCL2L12 TEAD2 CA11 CYTH2 HRC CABP5 RPL18 NOSIP FUZ FLT3LG PPP1R15A NUP62 SNAR-A8 CGB3 SNAR-C3 PRRG2 CGB8 DKKL1 LOC101928295 TMEM143 NTN5 HSD17B14 SULT2B1 AP2A1 CGB1 SNAR-A6 RASIP1 MIR4750 FGF21 SNAR-C4 IZUMO1 PTOV1 SNAR-A3 KCNA7 PTOV1-AS2 CGB7 FAM83E SIGLEC16 C19orf73 MIR4324 PNKP MIR150 SNAR-A11 SNAR-A1 GFY SNAR-B2 LOC105372430 PRMT1 SNORD34 MED25 MIR6798 ATF5 SLC17A7 KCNJ14 SNORD32A PLA2G4C-AS1 FUT2 KDELR1 CD37 RRAS FLJ26850 SNAR-A10 SPHK2 PTH2 SNAR-A12 BSPH1 NTF4 ZNF473 VRK3 DBP SNAR-C5 IRF3 ELSPBP1 SPACA4 AKT1S1 BAX FTL SNAR-A2 SNAR-B1 EMP3 SNAR-A7 TRPM4 TULP2 SNAR-D SNAR-C2 MIR5088 DHDH LOC101059948 SNAR-A4 RPL13A LMTK3 MIR4749 CARD8 SCAF1 TSKS LOC100287477 ZNF114 CCDC114 PRR12 PLEKHA4 MIR6800 MIR4751 SNAR-C1 SNRNP70 PTOV1-AS1 SIGLEC11 ADM5 MIR6799 NUCB1 ALDH16A1 CCDC155 LIN7B SLC6A16 SNORD33 C19orf68 SNAR-G1 RUVBL2 SNAR-G2 CGB5 MAMSTR CARD8-AS1 BCAT2 GYS1 LIG1 SNORD35B GRIN2D
dgv3618n100	Chr.19:48948950 - 49021211 on Build GRCh38	Gain	LHB BAX RUVBL2 GYS1 LOC101059948 FTL MIR6798
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	LHB NUCB1 BAX LIN7B CGB8 SNAR-G1 KCNA7 RUVBL2 SNAR-G2 FTL CGB7 PPFIA3 CGB5 C19orf73 NUCB1-AS1 CGB2 NTF4 DHDH GYS1 LOC101059948 CGB3 CGB1 SNRNP70 MIR6798
nsv833856	Chr.19:48847866 - 48986483 on Build GRCh38	Loss	PLEKHA4 NUCB1 PPP1R15A BAX TULP2 NUCB1-AS1 DHDH GYS1 FTL
nsv953598	Chr.19:48957644 - 49085143 on Build GRCh38	Deletion	LHB BAX CGB8 SNAR-G1 KCNA7 RUVBL2 SNAR-G2 FTL CGB7 CGB5 CGB2 NTF4 GYS1 LOC101059948 CGB3 CGB1 SNRNP70 MIR6798

More Information

Additional Information:

For this assay, SNP(s) [rs117997270] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

glycogen biosynthetic process
heart development

Function(s)

glycogen (starch) synthase activity
protein binding
glucose binding
protein kinase binding
glycogen synthase activity, transferring glucose-1-phosphate