Product Details

SNP ID

rs180778128

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:137048968 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTCTGGAAGATCACGCCGCCGAA[A/G]GCGCGCTCGTCGAAGCCGTAGCCGC

Phenotype

MIM: 602012 MIM: 605798

Polymorphism

A/G, Transition 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	1242	Silent Mutation	GCC,GCT	A396A	NP_001237.1
NM_203468.2	1242	Silent Mutation	GCC,GCT	A419A	NP_982293.1
XM_011519212.2	1242	Silent Mutation	GCC,GCT	A316A	XP_011517514.1

Gene

NPDC1

Gene Name

neural proliferation, differentiation and control 1

There are no transcripts associated with this gene.

View Full Product Details