Product Details

SNP ID

rs201149309

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:23433081 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCACCAGGAAGCAGCCAGAGAACA[C/G]GTAGTGGTTGTAGACAAAGGAAACG

Phenotype

MIM: 607577

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ENTPD4 PubMed Links

Gene Details

Gene

ENTPD4

Gene Name

ectonucleoside triphosphate diphosphohydrolase 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001128930.2	1944	Missense Mutation	CTG,GTG	L558V	NP_001122402.1
NM_004901.4	1944	Missense Mutation	CTG,GTG	L566V	NP_004892.1

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