Product Details

SNP ID

rs200905387

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:79733608 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACGCCACGCTGGGCATCCAGAGGTG[A/G]TGGGACAACGGCAGCGTGCCCATCT

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	391	Nonsense Mutation	TGA,TGG	*118W	NP_848638.3
XM_011524737.1	391	Nonsense Mutation	TGA,TGG	*191W	XP_011523039.1

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