Product Details

SNP ID

rs117240588

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:129616139 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATTTTCAGCCCAACTTAATGCAGT[A/G]TAGTTAGCAAAACATCCAAAAGGCT

Phenotype

MIM: 600879

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NRF1 PubMed Links

Gene Details

Gene

NRF1

Gene Name

nuclear respiratory factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001040110.1		Intron			NP_001035199.1
NM_001293163.1		Intron			NP_001280092.1
NM_001293164.1		Intron			NP_001280093.1
NM_005011.4		Intron			NP_005002.3

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