Product Details

SNP ID
rs142411576
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.20:63993422 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATTTCCTAGGGAGCAAAGGGAGAA[A/G]GAAGAAATAGAGAAATATCGTATGG
Phenotype
MIM: 613979
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
PRPF6 PubMed Links

Gene Details

Gene
PRPF6
Gene Name
pre-mRNA processing factor 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_012469.3 543 Silent Mutation AAA,AAG K125K NP_036601.2
XM_006723769.2 543 Silent Mutation AAA,AAG K125K XP_006723832.1

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