Product Details

SNP ID
rs149803092
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:60891232 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGCGATGAACTTGGCGTGATGCCC[A/G]AAGGCCACCCCTGTGGTCAGGCCGC
Phenotype
MIM: 608330
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PRPF19 PubMed Links

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 1656 Silent Mutation TTC,TTT F483F NP_055317.1

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