Product Details

SNP ID

rs148595893

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.5:53560667 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGCGTTTGCCTGCAGCAAGATGG[A/C]GGCGGTGTCAATGTCAGTGGTACTG

Phenotype

MIM: 602694

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

NDUFS4 PubMed Links

Additional Information

For this assay, SNP(s) [rs2279516] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

NDUFS4

Gene Name

NADH:ubiquinone oxidoreductase subunit S4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318051.1	35	Missense Mutation	GAG,GCG	E2A	NP_001304980.1
NM_002495.3	35	Missense Mutation	GAG,GCG	E2A	NP_002486.1
XM_017009491.1	35	Missense Mutation	GAG,GCG	E2A	XP_016864980.1

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