Product Details

SNP ID
rs143668632
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:47441678 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCAGCGCCTGCACCTGCCCCAGG[C/T]GGTTTCCGATCTCGGTCATGATGCT
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 1059 Missense Mutation CAC,CGC H282R NP_005046.2
NM_032645.4 1059 Intron NP_116034.2
XM_005253042.3 1059 Missense Mutation CAC,CGC H282R XP_005253099.1
XM_005253043.3 1059 Intron XP_005253100.1
XM_011520252.1 1059 Missense Mutation CAC,CGC H282R XP_011518554.1

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