Product Details

SNP ID
rs144177272
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:43733373 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCTTCACTGTCCATGAAGGGTAC[C/T]AGGAATAAGTTGACCTCAGAGTCCA
Phenotype
MIM: 613176
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SMG9 PubMed Links

Gene Details

Gene
SMG9
Gene Name
SMG9, nonsense mediated mRNA decay factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
XM_005259057.2 1394 Silent Mutation CTA,CTG L430L XP_005259114.1
XM_011527113.1 1394 Silent Mutation CTA,CTG L430L XP_011525415.1
XM_011527114.1 1394 Silent Mutation CTA,CTG L430L XP_011525416.1
XM_011527115.1 1394 Silent Mutation CTA,CTG L430L XP_011525417.1
XM_011527116.1 1394 Silent Mutation CTA,CTG L430L XP_011525418.1
XM_017026988.1 1394 Silent Mutation CTA,CTG L186L XP_016882477.1

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