Product Details

SNP ID

rs200426486

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:137049889 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTCACCTGAGCCCAGGTCTGGTTG[A/C]AGACATTCACTGCGGCTGCCTCCAG

Phenotype

MIM: 602012 MIM: 605798

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ENTPD2 PubMed Links

Gene Details

Gene

ENTPD2

Gene Name

ectonucleoside triphosphate diphosphohydrolase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001246.3	1184	Missense Mutation	TGC,TTC	C377F	NP_001237.1
NM_203468.2	1184	Missense Mutation	TGC,TTC	C377F	NP_982293.1
XM_011519212.2	1184	Missense Mutation	TGC,TTC	C274F	XP_011517514.1

Gene

NPDC1

Gene Name

neural proliferation, differentiation and control 1

There are no transcripts associated with this gene.

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