Product Details

SNP ID
rs143867433
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:137050532 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCCTCGGCCAGCAGGGGTGGAAGC[C/T]GTGGGTCTGGGGGAATCACCAGCGT
Phenotype
MIM: 602012 MIM: 605798
Polymorphism
C/T, 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_001246.3 835 Missense Mutation AGC,GGC S261G NP_001237.1
NM_203468.2 835 Missense Mutation AGC,GGC S261G NP_982293.1
XM_011519212.2 835 Missense Mutation AGC,GGC S158G 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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