Product Details

SNP ID

rs200444646

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.22:39225793 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGAATTTCCGGTGCTTGCCCTTG[C/G]GGGGCCGGCGGACTCGCACCGTCCG

Phenotype

MIM: 190040

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

PDGFB PubMed Links

Additional Information

For this assay, SNP(s) [rs35978693] 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

PDGFB

Gene Name

platelet derived growth factor subunit B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002608.3	1748	Missense Mutation	CCC,CGC	P219R	NP_002599.1
NM_033016.3	1748	Missense Mutation	CCC,CGC	P204R	NP_148937.1

View Full Product Details