Product Details

SNP ID

rs193221958

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:86773 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGTGGTCACCACCAGCACGCTGC[A/G]GAACTTGTCAAACAGCATGAGCAGC

Phenotype

MIM: 156565 MIM: 600928

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MPG PubMed Links

Gene Details

Gene

MPG

Gene Name

N-methylpurine DNA glycosylase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001015052.2	1966	Intron			NP_001015052.1
NM_001015054.2	1966	Intron			NP_001015054.1
NM_002434.3	1966	Intron			NP_002425.2

Gene

NPRL3

Gene Name

NPR3 like, GATOR1 complex subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039476.2	1966	Missense Mutation	CGC,TGC	R369C	NP_001034565.1
NM_001077350.2	1966	Missense Mutation	CGC,TGC	R548C	NP_001070818.1
NM_001243247.1	1966	Missense Mutation	CGC,TGC	R470C	NP_001230176.1
NM_001243248.1	1966	Missense Mutation	CGC,TGC	R523C	NP_001230177.1
NM_001243249.1	1966	Missense Mutation	CGC,TGC	R523C	NP_001230178.1

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