Product Details

SNP ID

rs146560356

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:60891214 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTGTCCATGCCTGTTGAAGCGAT[G/T]AACTTGGCGTGATGCCCGAAGGCCA

Phenotype

MIM: 608330

Polymorphism

G/T, 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	1674	Missense Mutation	TTA,TTC	L489F	NP_055317.1

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