Product Details

SNP ID

rs146844863

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:54095937 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACGTAGGGCGCGGAGGGCGTGTGA[C/T]AGTAGCAGCTGTAGGTGCCGGGGGC

Phenotype

MIM: 603832 MIM: 606862

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NDUFA3 PubMed Links

Gene Details

Gene

NDUFA3

Gene Name

NADH:ubiquinone oxidoreductase subunit A3

There are no transcripts associated with this gene.

Gene

OSCAR

Gene Name

osteoclast associated, immunoglobulin-like receptor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282349.1	794	Missense Mutation	TAT,TGT	Y197C	NP_001269278.1
NM_001282350.1	794	Missense Mutation	TAT,TGT	Y186C	NP_001269279.1
NM_130771.4	794	Missense Mutation	TAT,TGT	Y201C	NP_570127.3
NM_133168.4	794	Missense Mutation	TAT,TGT	Y186C	NP_573398.2
NM_133169.4	794	Missense Mutation	TAT,TGT	Y197C	NP_573399.2
NM_206818.2	794	Missense Mutation	TAT,TGT	Y201C	NP_996554.2

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