Product Details

SNP ID

rs202089750

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:50679413 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGGGAACACAGCCCTGCACATCTG[T/C]GCCCTCTACAACCAGGTGCGACTGT

Phenotype

MIM: 606230

Polymorphism

T/C, 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	870	Silent Mutation	TGC,TGT	C290C	NP_277052.1

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