Product Details

SNP ID
rs112534097
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:43732907 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTGACAGCTGTGGCCGGGCCATGG[A/G]CATCACTTGGCTCCGGAGCTTGCTC
Phenotype
MIM: 613176
Polymorphism
A/G, 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 1539 Missense Mutation CCC,TCC P479S XP_005259114.1
XM_011527113.1 1539 Missense Mutation CCC,TCC P479S XP_011525415.1
XM_011527114.1 1539 Missense Mutation CCC,TCC P479S XP_011525416.1
XM_011527115.1 1539 Missense Mutation CCC,TCC P479S XP_011525417.1
XM_011527116.1 1539 Missense Mutation CCC,TCC P479S XP_011525418.1
XM_017026988.1 1539 Missense Mutation CCC,TCC P235S XP_016882477.1

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