Product Details

SNP ID
rs73428142
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:111418383 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGCGCTACTTCTGCCGCGAGGTG[C/T]GCGACGGACGGGCGCCGGGCCGCGA
Phenotype
MIM: 605093
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SH2B3 PubMed Links

Gene Details

Gene
SH2B3
Gene Name
SH2B adaptor protein 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001291424.1 284 Intron NP_001278353.1
NM_005475.2 284 Missense Mutation CGC,TGC R80C NP_005466.1
XM_005253818.4 284 Missense Mutation CGC,TGC R80C XP_005253875.1
XM_005253819.4 284 Missense Mutation CGC,TGC R80C XP_005253876.1
XM_006719180.3 284 Intron XP_006719243.1
XM_011537719.2 284 Missense Mutation CGC,TGC R80C XP_011536021.1
XM_011537720.2 284 Missense Mutation CGC,TGC R80C XP_011536022.1
XM_011537721.2 284 Intron XP_011536023.1

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