Product Details

SNP ID

rs79660180

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.6:46161610 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATGATCCATTGTGTGGCATGGCGG[G/T]GATATTGAGGAGGTGGCATAGTAGT

Phenotype

MIM: 617001

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

ENPP5 PubMed Links

Additional Information

For this assay, SNP(s) [rs2235881] 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

ENPP5

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001290072.1	1305	Missense Mutation	ACC,CCC	T384P	NP_001277001.1
NM_001290073.1	1305	Missense Mutation	ACC,CCC	T290P	NP_001277002.1
NM_021572.5	1305	Missense Mutation	ACC,CCC	T384P	NP_067547.1
XM_005249260.3	1305	Missense Mutation	ACC,CCC	T384P	XP_005249317.1
XM_011514786.2	1305	Missense Mutation	ACC,CCC	T384P	XP_011513088.1

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