Product Details

SNP ID

rs143447407

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:111449863 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCTCTCTGAAGAATGCAGCCTTC[C/T]TAGGTCCAGGGTAAGTGTGAGGATA

Phenotype

MIM: 603270 MIM: 611734

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATP5F1 PubMed Links

Gene Details

Gene

ATP5F1

Gene Name

ATP synthase, H+ transporting, mitochondrial Fo complex subunit B1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001688.4	488	Silent Mutation	CTA,TTA	L23L	NP_001679.2

Gene

WDR77

Gene Name

WD repeat domain 77

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317062.1	488	Intron			NP_001303991.1
NM_001317063.1	488	Intron			NP_001303992.1
NM_001317064.1	488	Intron			NP_001303993.1
NM_024102.3	488	Intron			NP_077007.1

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