Product Details

SNP ID

rs145748444

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:60891253 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCGAAGGCCACCCCTGTGGTCAG[C/G]CCGCTATGCTCTGAGGAGAAAGATA

Phenotype

MIM: 608330

Polymorphism

C/G, Transversion 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	1635	Silent Mutation	GGC,GGG	G476G	NP_055317.1

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