Product Details

SNP ID
rs17852003
Assay Type
Functionally tested
NCBI dbSNP Submissions
48
Location
Chr.1:162397281 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGCTTTGTCCGGCAGCCTTATCTT[C/T]AAGGCAAGACATCCACATAATCGCT
Phenotype
MIM: 608510
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SH2D1B PubMed Links

Gene Details

Gene
SH2D1B
Gene Name
SH2 domain containing 1B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_053282.4 520 Silent Mutation TAA,TGA *133* NP_444512.2

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