Product Details

SNP ID

rs3176435

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:86096 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCAGGGCCAGCCCAGGCCCTCGTG[A/C]CCCAGATGGTCAGGACCAGGTCACA

Phenotype

MIM: 156565 MIM: 600928 MIM: 614403

Polymorphism

A/C, Transversion 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	2643	Intron			NP_001015052.1
NM_001015054.2	2643	Intron			NP_001015054.1
NM_002434.3	2643	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	2643	UTR 3			NP_001034565.1
NM_001077350.2	2643	UTR 3			NP_001070818.1
NM_001243247.1	2643	UTR 3			NP_001230176.1
NM_001243248.1	2643	UTR 3			NP_001230177.1
NM_001243249.1	2643	UTR 3			NP_001230178.1

Gene

RHBDF1

Gene Name

rhomboid 5 homolog 1

There are no transcripts associated with this gene.

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