Product Details

SNP ID

rs201242991

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:70472944 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGACTCGAGTTACCCCAAGATCGAT[A/G]AGGTCCTCCTTCTGCAGGTTTGGTA

Phenotype

MIM: 603290

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SHANK2 PubMed Links

Gene Details

Gene

SHANK2

Gene Name

SH3 and multiple ankyrin repeat domains 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012309.4	6825	Silent Mutation	CTC,CTT	L1825L	NP_036441.2
NM_133266.4	6825	Silent Mutation	CTC,CTT	L1237L	NP_573573.2
XM_005277932.3	6825	Silent Mutation	CTC,CTT	L1446L	XP_005277989.1
XM_017017387.1	6825	Silent Mutation	CTC,CTT	L1825L	XP_016872876.1
XM_017017388.1	6825	Silent Mutation	CTC,CTT	L1825L	XP_016872877.1
XM_017017389.1	6825	Silent Mutation	CTC,CTT	L1816L	XP_016872878.1
XM_017017390.1	6825	Silent Mutation	CTC,CTT	L1255L	XP_016872879.1

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