Product Details

SNP ID

rs200430454

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:49003317 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCCGGGGACTGGGGCTGGACGAT[A/G]CCTTGGAGCCTCGGCAGGTAGAGCA

Phenotype

MIM: 138570 MIM: 604788

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GYS1 PubMed Links

Gene Details

Gene

GYS1

Gene Name

glycogen synthase 1

There are no transcripts associated with this gene.

Gene

MIR6798

Gene Name

microRNA 6798

There are no transcripts associated with this gene.

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	570	UTR 5			NP_001308119.1
NM_001321191.1	570	UTR 5			NP_001308120.1
NM_006666.2	570	Missense Mutation	ACC,GCC	T36A	NP_006657.1
XM_011526330.1	570	UTR 5			XP_011524632.1

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