Product Details

SNP ID

rs146871690

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:59019554 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAATTGTCCATATTCAGATTGGCC[A/C]GTGTGGCAACCAGATCGGAGCCAAG

Phenotype

MIM: 606153 MIM: 612901

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ATP5E PubMed Links

Gene Details

Gene

ATP5E

Gene Name

ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit

There are no transcripts associated with this gene.

Gene

SLMO2-ATP5E

Gene Name

SLMO2-ATP5E readthrough

There are no transcripts associated with this gene.

Gene

TUBB1

Gene Name

tubulin beta 1 class VI

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_030773.3	301	Missense Mutation	CAG,CCG	Q11P	NP_110400.1
XM_017028085.1	301	Intron			XP_016883574.1

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