Product Details

SNP ID
rs111928995
Assay Type
Functionally tested
NCBI dbSNP Submissions
21
Location
Chr.1:89007849 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATCTCTCCTTTAGTACTCGGGCCT[C/G]TTCCTAAAAAGGGACAAATGGAGGC
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 1801 Missense Mutation CAG,GAG Q476E NP_001306108.1
NM_001319180.1 1801 Missense Mutation CAG,GAG Q421E NP_001306109.1
NM_001319181.1 1801 Intron NP_001306110.1
NM_018284.2 1801 Missense Mutation CAG,GAG Q555E NP_060754.2
XM_005270743.2 1801 Nonsense Mutation CAG,GAG Q476E XP_005270800.1
XM_006710574.2 1801 Nonsense Mutation CAG,GAG Q528E XP_006710637.1
XM_011541233.1 1801 Nonsense Mutation CAG,GAG Q476E XP_011539535.1
XM_011541234.1 1801 Nonsense Mutation CAG,GAG Q474E XP_011539536.1
XM_017001013.1 1801 Nonsense Mutation CAG,GAG Q421E XP_016856502.1
XM_017001014.1 1801 Missense Mutation CAG,GAG Q340E XP_016856503.1

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