Product Details

SNP ID

rs139168222

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.9:137048707 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGTGCACCTGACGCAGCAGCAGGA[C/T]AAGCGCAGCCAGGAGCGCGGAGGCG

Phenotype

MIM: 602012 MIM: 605798

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

ENTPD2 PubMed Links

Additional Information

For this assay, SNP(s) [rs17853460] 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	1423	Missense Mutation	ATC,GTC	I457V	NP_001237.1
NM_203468.2	1423	Missense Mutation	ATC,GTC	I480V	NP_982293.1
XM_011519212.2	1423	Missense Mutation	ATC,GTC	I377V	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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