Product Details

SNP ID
rs200610146
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:38822814 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCGACAAAGGCCTGGGTGGCATCA[A/G]ACCGGCCACCCAGGGTATCCTGGGC
Phenotype
MIM: 609474
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
NPTXR PubMed Links

Gene Details

Gene
NPTXR
Gene Name
neuronal pentraxin receptor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014293.3 1452 Missense Mutation TCT,TTT S433F NP_055108.2

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