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SNP ID

rs143117272

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:100523889 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGTTCTTTGGAGGGATCACCGCCT[C/T]GTTCCAGGTACAGATTATTGTAAGG

Phenotype

MIM: 602140 MIM: 610258

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NDUFB8 PubMed Links

Gene Details

Gene

NDUFB8

Gene Name

NADH:ubiquinone oxidoreductase subunit B8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001284367.1	791	UTR 3			NP_001271296.1
NM_001284368.1	791	Intron			NP_001271297.1
NM_005004.3	791	Missense Mutation	CAA,CGA	Q170R	NP_004995.1

Gene

SEC31B

Gene Name

SEC31 homolog B, COPII coat complex component

There are no transcripts associated with this gene.

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