Product Details

SNP ID
rs45603036
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:47441668 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGCCACACCCAGCAGCGCCTGCAC[C/T]TGCCCCAGGCGGTTTCCGATCTCGG
Phenotype
MIM: 601592
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
RAPSN PubMed Links

Gene Details

Gene
RAPSN
Gene Name
receptor associated protein of the synapse
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005055.4 1069 Silent Mutation CAA,CAG Q285Q NP_005046.2
NM_032645.4 1069 Intron NP_116034.2
XM_005253042.3 1069 Silent Mutation CAA,CAG Q285Q XP_005253099.1
XM_005253043.3 1069 Intron XP_005253100.1
XM_011520252.1 1069 Silent Mutation CAA,CAG Q285Q XP_011518554.1

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