Product Details

SNP ID
rs192600042
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:37919880 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACAAGTGCTCAGCCCCTTTGATGG[A/G]TAGCTTTCTGGTGGTGTAGTAGTGG
Phenotype
MIM: 600314
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SHB PubMed Links

Gene Details

Gene
SHB
Gene Name
SH2 domain containing adaptor protein B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003028.2 2039 Missense Mutation CCC,TCC P491S NP_003019.2

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