Product Details

SNP ID

rs139383546

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:44680814 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTTTTACAATTGTGAAGGAAAGC[A/G]GTACCTTTTAAATCTCATTGATACA

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GUF1 PubMed Links

Gene Details

Gene

GUF1

Gene Name

GUF1 homolog, GTPase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021927.2	459	Missense Mutation	CAG,CGG	Q133R	NP_068746.2
XM_005248122.3	459	UTR 5			XP_005248179.1
XM_011513732.2	459	Missense Mutation	CAG,CGG	Q133R	XP_011512034.1

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