Product Details

SNP ID

rs145129604

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:50422871 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCCACCTGTCCCAGCCACCCCCT[A/G]TGAAGCCTTCGACCCGGCAGCAGCC

Phenotype

MIM: 174761 MIM: 606802

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

POLD1 PubMed Links

Additional Information

For this assay, SNP(s) [rs61729811] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

POLD1

Gene Name

DAN polymerase delta 1, catalytic subunit

There are no transcripts associated with this gene.

Gene

SPIB

Gene Name

Spi-B transcription factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001243998.1	198	Intron			NP_001230927.1
NM_001243999.1	198	Missense Mutation	TAT,TGT	Y58C	NP_001230928.1
NM_001244000.1	198	Missense Mutation	ATG,GTG	M39V	NP_001230929.1
NM_003121.4	198	Missense Mutation	TAT,TGT	Y58C	NP_003112.2

View Full Product Details