Product Details

SNP ID

rs140412357

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:54118577 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGTCTTCTCCTTTCCTACAGTTTG[C/G]TGAGATTATGATGAAGATTGAGGAG

Phenotype

MIM: 606419 MIM: 609519

Polymorphism

C/G, Transversion 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	578	Missense Mutation	GCT,GGT	A61G	NP_056444.3
XM_006723137.3	578	Missense Mutation	GCT,GGT	A61G	XP_006723200.1

Gene

TFPT

Gene Name

TCF3 fusion partner

There are no transcripts associated with this gene.

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