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SNP ID: rs689195
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.11:78070127 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: CGAAAATTAACACTCACTAATCTTA[C/T]GATTGAAATCCTGCTGTGGTCTGAA
Phenotype: MIM: 603845 MIM: 601926
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: NDUFC2 PubMed Links

Gene Details

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001204054.1		Intron			NP_001190983.1
NM_001204055.1		Intron			NP_001190984.1
NM_004549.5		Intron			NP_004540.1

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

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

Gene: THRSP
Gene Name: thyroid hormone responsive

There are no transcripts associated with this gene.

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