Product Details

SNP ID

rs149577265

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:34293504 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCACTTCAGTGACAATGAGCACA[C/T]AGACATACGTCCTGTGCTTCCTCTC

Phenotype

MIM: 609228

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NUDT3 PubMed Links

Gene Details

Gene

NUDT3

Gene Name

nudix hydrolase 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006703.3	738	Missense Mutation	TAT,TGT	Y96C	NP_006694.1

Gene

RPS10-NUDT3

Gene Name

RPS10-NUDT3 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001202470.2	738	Missense Mutation	TAT,TGT	Y215C	NP_001189399.1

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