Product Details

SNP ID
rs12490341
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:161222029 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATACAGAACGATGGAGTATATGGCA[A/G]AATCCACCGACCGCAGCCCTGGACA
Phenotype
MIM: 611021
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
NMD3 PubMed Links

Gene Details

Gene
NMD3
Gene Name
NMD3 ribosome export adaptor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320227.1 156 Missense Mutation AAA,GAA K6E NP_001307156.1
NM_015938.4 156 Intron NP_057022.2
XM_005247511.1 156 Missense Mutation AAA,GAA K6E XP_005247568.1
XM_005247512.1 156 Missense Mutation AAA,GAA K6E XP_005247569.1

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