Product Details

SNP ID

rs201013911

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:50678791 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGAGTGCCCCCTGAGCCTCGCAGC[C/T]CAGCTGGACAACGCCACGGACCTGC

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	471	Silent Mutation	GCC,GCT	A157A	NP_277052.1

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