Product Details

SNP ID
rs75289061
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:35888462 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTACCTGCCCCCCCTGCAGCAGGTG[C/T]TCCAGGCACCTCGCCGGCCTGGCAT
Phenotype
MIM: 606228
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
AGO1 PubMed Links

Gene Details

Gene
AGO1
Gene Name
argonaute 1, RISC catalytic component
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317122.1 249 Missense Mutation CTC,TTC L21F NP_001304051.1
NM_001317123.1 249 UTR 5 NP_001304052.1
NM_012199.4 249 Missense Mutation CTC,TTC L21F NP_036331.1
XM_011541236.2 249 Missense Mutation CTC,TTC L21F XP_011539538.1
XM_017001016.1 249 Missense Mutation CTC,TTC L21F XP_016856505.1
XM_017001017.1 249 Missense Mutation CTC,TTC L21F XP_016856506.1
XM_017001018.1 249 Intron XP_016856507.1
XM_017001019.1 249 UTR 5 XP_016856508.1

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