Product Details

SNP ID
rs145357531
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:47441165 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACACAGAATCAAGTCTGACCTTGTT[C/T]CCCACCTCCTCGGCCAGATCCTGGG
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 1174 Silent Mutation GGA,GGG G320G NP_005046.2
NM_032645.4 1174 Intron NP_116034.2
XM_005253042.3 1174 Intron XP_005253099.1
XM_005253043.3 1174 Silent Mutation GGA,GGG G279G XP_005253100.1
XM_011520252.1 1174 Missense Mutation AAA,GAA K349E XP_011518554.1

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