Product Details

SNP ID

rs4880083

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.9:137050284 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCCACCCGCCTGCCCCTACTCAC[C/G]ACAAAGTTCCCAGCCACTGGGGGCT

Phenotype

MIM: 602012 MIM: 605798

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

ENTPD2 PubMed Links

Additional Information

For this assay, SNP(s) [rs10870170,rs113918890] are located under a primer 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

ENTPD2

Gene Name

ectonucleoside triphosphate diphosphohydrolase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001246.3	1083	Silent Mutation	GTC,GTG	V343V	NP_001237.1
NM_203468.2	1083	Silent Mutation	GTC,GTG	V343V	NP_982293.1
XM_011519212.2	1083	Silent Mutation	GTC,GTG	V240V	XP_011517514.1

Gene

NPDC1

Gene Name

neural proliferation, differentiation and control 1

There are no transcripts associated with this gene.

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