Product Details

SNP ID

rs145931726

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:79733624 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGAGGTGGTGGGACAACGGCAGC[A/G]TGCCCATCTGGATCACAGCCCAGAG

Phenotype

MIM: 616997

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ENPP7 PubMed Links

Gene Details

Gene

ENPP7

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_178543.4	407	Missense Mutation	ATG,GTG	M124V	NP_848638.3
XM_011524737.1	407	Missense Mutation	ATG,GTG	M197V	XP_011523039.1

View Full Product Details