Product Details

SNP ID

rs114025396

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.12:21537033 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAAAATGGTGACTTGATATTTAAC[C/T]GATCCCTTTCAGCCTCCTCTTCCTC

Phenotype

MIM: 138571

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

GYS2 PubMed Links

Additional Information

For this assay, SNP(s) [rs7954038] are located under a primer 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.

Gene Details

Gene

GYS2

Gene Name

glycogen synthase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021957.3	2288	Missense Mutation	CAG,CGG	Q678R	NP_068776.2
XM_006719063.3	2288	Missense Mutation	CAG,CGG	Q601R	XP_006719126.1
XM_017019245.1	2288	Intron			XP_016874734.1

Gene

SPX

Gene Name

spexin hormone

There are no transcripts associated with this gene.

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