Product Details

SNP ID
rs201947904
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:47438901 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCCCTTTGCTGCGGTAAATGCTCT[A/C]GCTCAGACAGTGCAGCTTGAGCTGG
Phenotype
MIM: 601592
Polymorphism
A/C, Transversion 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 1211 Missense Mutation AAG,CAG K333Q NP_005046.2
NM_032645.4 1211 Missense Mutation AAG,CAG K274Q NP_116034.2
XM_005253042.3 1211 Nonsense Mutation AAG,CAG K315Q XP_005253099.1
XM_005253043.3 1211 Nonsense Mutation AAG,CAG K292Q XP_005253100.1
XM_011520252.1 1211 Missense Mutation CAA,CCA Q361P XP_011518554.1

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