Product Details

SNP ID

rs148078235

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:47441692 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGCCCCAGGCGGTTTCCGATCTC[A/G]GTCATGATGCTCATGGCGGAGTCGT

Phenotype

MIM: 601592

Polymorphism

A/G, 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	1045	Silent Mutation	ACC,ACT	T277T	NP_005046.2
NM_032645.4	1045	Intron			NP_116034.2
XM_005253042.3	1045	Silent Mutation	ACC,ACT	T277T	XP_005253099.1
XM_005253043.3	1045	Intron			XP_005253100.1
XM_011520252.1	1045	Silent Mutation	ACC,ACT	T277T	XP_011518554.1

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