Product Details

SNP ID
rs187723610
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:60898868 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCCTATGAGGCAACTTACAGCAGC[C/T]GGAGGTCTCATCTGTCACCTTGGTG
Phenotype
MIM: 608330
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
PRPF19 PubMed Links
Additional Information
For this assay, SNP(s) [rs3763840] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene
PRPF19
Gene Name
pre-mRNA processing factor 19
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014502.4 1255 Missense Mutation AGC,GGC S350G NP_055317.1

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