Product Details

SNP ID: rs149590358
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.11:78064239 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCAGTTCCACCTGCACTTCTCCAGC[A/C]TCCATCACATCCTCATGCACCTCAC
Phenotype: MIM: 603845 MIM: 601926
Polymorphism: A/C, Transversion substitution
Allele Nomenclature
Literature Links: NDUFC2 PubMed Links

Gene Details

Gene: NDUFC2
Gene Name: NADH:ubiquinone oxidoreductase subunit C2

There are no transcripts associated with this gene.

Gene: NDUFC2-KCTD14
Gene Name: NDUFC2-KCTD14 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001203260.1	379	Intron			NP_001190189.1
NM_001203261.1	379	Intron			NP_001190190.1
NM_001203262.1	379	Intron			NP_001190191.1

Gene: THRSP
Gene Name: thyroid hormone responsive

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003251.3	379	Missense Mutation	ATC,CTC	I120L	NP_003242.1

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