Product Details

SNP ID

rs117639846

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:21537101 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCACTTCATCTTCCACATCACTGCT[C/G]TGAGGACTGGAGGCCTGAGACCCTG

Phenotype

MIM: 138571

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

GYS2 PubMed Links

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	2220	Missense Mutation	CAC,CAG	H655Q	NP_068776.2
XM_006719063.3	2220	Missense Mutation	CAC,CAG	H578Q	XP_006719126.1
XM_017019245.1	2220	Intron			XP_016874734.1

Gene

SPX

Gene Name

spexin hormone

There are no transcripts associated with this gene.

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