Product Details

SNP ID

rs142400023

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:131641527 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTTGGACTCAGGAAACTGGAAAAG[A/C]AAGGTATACCCCTCAGCCTTTTCTC

Phenotype

MIM: 602182

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ENPP3 PubMed Links

Gene Details

Gene

ENPP3

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005021.4	301	Missense Mutation	AAA,CAA	K51Q	NP_005012.2
XM_011535897.1	301	Intron			XP_011534199.1
XM_017010932.1	301	Intron			XP_016866421.1

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