Product Details

SNP ID

rs142606096

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:94250346 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAGGTCATGGCAGGATTTGGACTT[C/G]AGCTTGAAGGCCATATTCTTGTTGT

Phenotype

MIM: 600164

Polymorphism

C/G, Transversion 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	1298	Silent Mutation	CTC,CTG	L285L	NP_005252.1
NM_181702.2	1298	Silent Mutation	CTC,CTG	L285L	NP_859053.1
XM_017013315.1	1298	UTR 3			XP_016868804.1

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