Product Details

SNP ID

rs76251057

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:54118416 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGACACAGCTGGATCTTTCCGGGGA[C/T]TCAGTCAAGACCATCGCCAAGCTAT

Phenotype

MIM: 606419 MIM: 609519

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PRPF31 PubMed Links

Gene Details

Gene

PRPF31

Gene Name

pre-mRNA processing factor 31

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015629.3	534	Silent Mutation	GAC,GAT	D46D	NP_056444.3
XM_006723137.3	534	Silent Mutation	GAC,GAT	D46D	XP_006723200.1

Gene

TFPT

Gene Name

TCF3 fusion partner

There are no transcripts associated with this gene.

View Full Product Details