Product Details

SNP ID

rs202227285

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:184091338 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCACATTGCACATGACATTGTAGA[C/T]GTCCACCGACCTGATAGGAGCAGCT

Phenotype

MIM: 616983

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ENPP6 PubMed Links

Gene Details

Gene

ENPP6

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_153343.3	1304	Missense Mutation	ATC,GTC	I388V	NP_699174.1

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