Product Details

SNP ID

rs143902744

Assay Type

Functionally Tested

NCBI dbSNP Submissions

2

Location

Chr.1:89007747 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTTAGATCTTTAGCTTATGCGACA[C/T]ATATCTCTTGGTTTTTTTTTTCAGG

Phenotype

MIM: 600413

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

GBP3 PubMed Links

Additional Information

For this assay, SNP(s) [rs548474277] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

GBP3

Gene Name

guanylate binding protein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001319179.1	1903	Missense Mutation	ATG,GTG	M510V	NP_001306108.1
NM_001319180.1	1903	Missense Mutation	ATG,GTG	M455V	NP_001306109.1
NM_001319181.1	1903	Intron			NP_001306110.1
NM_018284.2	1903	Missense Mutation	ATG,GTG	M589V	NP_060754.2
XM_005270743.2	1903	Missense Mutation	ATG,GTG	M510V	XP_005270800.1
XM_006710574.2	1903	Missense Mutation	ATG,GTG	M562V	XP_006710637.1
XM_011541233.1	1903	Missense Mutation	ATG,GTG	M510V	XP_011539535.1
XM_011541234.1	1903	Missense Mutation	ATG,GTG	M508V	XP_011539536.1
XM_017001013.1	1903	Missense Mutation	ATG,GTG	M455V	XP_016856502.1
XM_017001014.1	1903	Missense Mutation	ATG,GTG	M374V	XP_016856503.1

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