Product Details

SNP ID

rs3764617

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:48993866 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TAGAGGAGCCAGAACATCTCGCTCC[C/T]CGCGCGTTTCCGTTTCCGCTAGGAC

Phenotype

MIM: 138570 MIM: 604788

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GYS1 PubMed Links

Gene Details

Gene

GYS1

Gene Name

glycogen synthase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001161587.1	419	Intron			NP_001155059.1
NM_002103.4	419	Intron			NP_002094.2

Gene

RUVBL2

Gene Name

RuvB like AAA ATPase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321190.1	419	UTR 5			NP_001308119.1
NM_001321191.1	419	UTR 5			NP_001308120.1
NM_006666.2	419	UTR 5			NP_006657.1
XM_011526330.1	419	Intron			XP_011524632.1

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