Product Details

SNP ID

rs61753368

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:79563 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCCCAGGCACCTTGCCCCAGGGAG[C/T]GCTGCTTGGGACCGCCCACCACTCC

Phenotype

MIM: 156565 MIM: 600928 MIM: 614403

Polymorphism

C/T, 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	246	Missense Mutation	CGC,TGC	R55C	NP_001015052.1
NM_001015054.2	246	Missense Mutation	CGC,TGC	R43C	NP_001015054.1
NM_002434.3	246	Missense Mutation	CGC,TGC	R60C	NP_002425.2

Gene

NPRL3

Gene Name

NPR3 like, GATOR1 complex subunit

There are no transcripts associated with this gene.

Gene

RHBDF1

Gene Name

rhomboid 5 homolog 1

There are no transcripts associated with this gene.

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