Product Details

SNP ID
rs113228909
Assay Type
Functionally tested
NCBI dbSNP Submissions
13
Location
Chr.1:89007831 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGTACTTTCACCTTGGCATCTCT[C/G]CTTTAGTACTCGGGCCTGTTCCTAA
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 1819 Missense Mutation CAG,GAG Q482E NP_001306108.1
NM_001319180.1 1819 Missense Mutation CAG,GAG Q427E NP_001306109.1
NM_001319181.1 1819 Intron NP_001306110.1
NM_018284.2 1819 Missense Mutation CAG,GAG Q561E NP_060754.2
XM_005270743.2 1819 Missense Mutation CAG,GAG Q482E XP_005270800.1
XM_006710574.2 1819 Missense Mutation CAG,GAG Q534E XP_006710637.1
XM_011541233.1 1819 Missense Mutation CAG,GAG Q482E XP_011539535.1
XM_011541234.1 1819 Missense Mutation CAG,GAG Q480E XP_011539536.1
XM_017001013.1 1819 Missense Mutation CAG,GAG Q427E XP_016856502.1
XM_017001014.1 1819 Missense Mutation CAG,GAG Q346E XP_016856503.1

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