Product Details

SNP ID

rs200179940

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:89009055 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATGTTCTTGATAACTCTTCTCTTT[C/G]TCTTCCATCATCTGCTGATACTTTA

Phenotype

MIM: 600413

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

GBP3 PubMed Links

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	1689	Missense Mutation	GAC,GAG	D438E	NP_001306108.1
NM_001319180.1	1689	Missense Mutation	GAC,GAG	D383E	NP_001306109.1
NM_001319181.1	1689	Missense Mutation	GAC,GAG	D490E	NP_001306110.1
NM_018284.2	1689	Missense Mutation	GAC,GAG	D517E	NP_060754.2
XM_005270743.2	1689	Missense Mutation	GAC,GAG	D438E	XP_005270800.1
XM_006710574.2	1689	Missense Mutation	GAC,GAG	D490E	XP_006710637.1
XM_011541233.1	1689	Missense Mutation	GAC,GAG	D438E	XP_011539535.1
XM_011541234.1	1689	Missense Mutation	GAC,GAG	D436E	XP_011539536.1
XM_017001013.1	1689	Missense Mutation	GAC,GAG	D383E	XP_016856502.1
XM_017001014.1	1689	Missense Mutation	GAC,GAG	D302E	XP_016856503.1

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