Product Details

SNP ID

rs140501445

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:45095277 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACATGGATGAATACAGAAATTCTA[A/G]TAATGGCAGCACAGGCAACAGTTCA

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	208	Missense Mutation	AAT,AGT	N13S	NP_060392.3

View Full Product Details