Product Details

SNP ID

rs142314385

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:60898236 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAAGGCGATGCTAGTGATGGGGCC[C/T]GAGTGGCCAGGGAAGTTGGCCACAT

Phenotype

MIM: 608330

Polymorphism

C/T, 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	1383	Silent Mutation			NP_055317.1

View Full Product Details