Product Details

SNP ID
rs117216980
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:70467959 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTAGGTGTCCTCAACATTTCATAG[C/T]TCGAACCGTCCTTTCTTTACGTTGT
Phenotype
MIM: 603290
Polymorphism
C/T, 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 8769 UTR 3 NP_036441.2
NM_133266.4 8769 UTR 3 NP_573573.2
XM_005277932.3 8769 Intron XP_005277989.1
XM_017017387.1 8769 Intron XP_016872876.1
XM_017017388.1 8769 Intron XP_016872877.1
XM_017017389.1 8769 Intron XP_016872878.1
XM_017017390.1 8769 Intron XP_016872879.1

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