Product Details

SNP ID
rs150770546
Assay Type
Functionally tested
NCBI dbSNP Submissions
11
Location
Chr.1:89108220 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTCCAATGATTTGCTTCTCATCTG[C/G]ATATCCCATATGTCTTTTTGAAGTC
Phenotype
MIM: 600412
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
GBP2 PubMed Links

Gene Details

Gene
GBP2
Gene Name
guanylate binding protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004120.4 2045 Missense Mutation ATC,ATG I577M NP_004111.2

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