Product Details

SNP ID
rs201271047
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.14:45096209 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGACCTTGAAAAGCGGCACGACA[A/G]CATTAAACCATCAGATGAGGTGCGT
Phenotype
MIM: 614907
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
PRPF39 PubMed Links

Gene Details

Gene
PRPF39
Gene Name
pre-mRNA processing factor 39
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017922.3 601 Missense Mutation AAC,AGC N144S NP_060392.3

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