Product Details

SNP ID
rs147966227
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:47441659 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCAGCACTTGGCCACACCCAGCAG[C/T]GCCTGCACCTGCCCCAGGCGGTTTC
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 1078 Silent Mutation GCA,GCG A288A NP_005046.2
NM_032645.4 1078 Intron NP_116034.2
XM_005253042.3 1078 Silent Mutation GCA,GCG A288A XP_005253099.1
XM_005253043.3 1078 Intron XP_005253100.1
XM_011520252.1 1078 Silent Mutation GCA,GCG A288A XP_011518554.1

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