Product Details

SNP ID

rs189667722

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:45096156 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGACAGATTTTTCATACACTATCC[A/G]TATTGCTATGGTTACTGGAAAAAGT

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	548	Silent Mutation	CCA,CCG	P126P	NP_060392.3

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