Product Details

SNP ID

rs200775391

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:94250450 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCTTTTCTGGTAGGCCAGCCGCC[A/G]TTCATTCTTCTCCTTGCTGTCCCGC

Phenotype

MIM: 600164

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GEM PubMed Links

Gene Details

Gene

GEM

Gene Name

GTP binding protein overexpressed in skeletal muscle

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005261.3	1194	Missense Mutation	CGG,TGG	R251W	NP_005252.1
NM_181702.2	1194	Missense Mutation	CGG,TGG	R251W	NP_859053.1
XM_017013315.1	1194	UTR 3			XP_016868804.1

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