Product Details

SNP ID
rs200550865
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:33455423 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCAGCTCATTTATTCAGGGCGTC[C/T]CCGCCTGCCACTGGATGCTCTTCCT
Phenotype
MIM: 603384
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SYNGAP1 PubMed Links

Gene Details

Gene
SYNGAP1
Gene Name
synaptic Ras GTPase activating protein 1
There are no transcripts associated with this gene.

Gene
ZBTB9
Gene Name
zinc finger and BTB domain containing 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152735.3 591 Missense Mutation CCC,CTC P108L NP_689948.1

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