Product Details

SNP ID

rs139947240

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:112991273 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCTTCACGGCCACTGAACGGAAC[A/C]GCATCGACTACGTCAGCTCCGCCGT

Phenotype

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

GTPBP8 PubMed Links

Gene Details

Gene

GTPBP8

Gene Name

GTP binding protein 8 (putative)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014170.2	321	Missense Mutation	AGC,CGC	S92R	NP_054889.2
NM_138485.1	321	Missense Mutation	AGC,CGC	S92R	NP_612494.1

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