Product Details

SNP ID
rs201282170
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.22:50683345 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCCCTCTTCCCCGCAACAGGAGAG[C/T]TGTGCTCGTGTCCTGCTCTTCCGTG
Phenotype
MIM: 606230
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
SHANK3 PubMed Links

Gene Details

Gene
SHANK3
Gene Name
SH3 and multiple ankyrin repeat domains 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_033517.1 891 Silent Mutation AGC,AGT S297S NP_277052.1

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