Product Details

SNP ID
rs151210291
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:89007807 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCTTTTGTATCTCATTTTGAAGTT[A/G]GGTACTTTCACCTTGGCATCTCTCC
Phenotype
MIM: 600413
Polymorphism
A/G, Transition 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 1843 Nonsense Mutation CAA,TAA Q490* NP_001306108.1
NM_001319180.1 1843 Nonsense Mutation CAA,TAA Q435* NP_001306109.1
NM_001319181.1 1843 Intron NP_001306110.1
NM_018284.2 1843 Nonsense Mutation CAA,TAA Q569* NP_060754.2
XM_005270743.2 1843 Nonsense Mutation CAA,TAA Q490* XP_005270800.1
XM_006710574.2 1843 Nonsense Mutation CAA,TAA Q542* XP_006710637.1
XM_011541233.1 1843 Nonsense Mutation CAA,TAA Q490* XP_011539535.1
XM_011541234.1 1843 Nonsense Mutation CAA,TAA Q488* XP_011539536.1
XM_017001013.1 1843 Nonsense Mutation CAA,TAA Q435* XP_016856502.1
XM_017001014.1 1843 Nonsense Mutation CAA,TAA Q354* XP_016856503.1

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