Product Details

SNP ID

rs140189615

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:44678772 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGGGCTACCGACAGGCTCTACAG[A/C]TCCGCAGAATTCAAGGTGACTGCCC

Phenotype

Polymorphism

A/C, Transversion 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	323	Missense Mutation	AGA,AGC	R50S	NP_068746.2
XM_005248122.3	323	UTR 5			XP_005248179.1
XM_011513732.2	323	Missense Mutation	AGA,AGC	R50S	XP_011512034.1

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