Product Details

SNP ID

rs148532160

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:179615015 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGACCATGGGAAAAGACTATTTGTC[A/T]TCAGACCTTCTAGATTCTATGACAG

Phenotype

MIM: 603841

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

NDUFB5 PubMed Links

Gene Details

Gene

NDUFB5

Gene Name

NADH:ubiquinone oxidoreductase subunit B5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199957.1	198	Intron			NP_001186886.1
NM_001199958.1	198	Missense Mutation	ATC,TTC	I57F	NP_001186887.1
NM_002492.3	198	Missense Mutation	ATC,TTC	I57F	NP_002483.1

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