Product Details

SNP ID

rs6070698

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:59033863 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GATTGTTTTTCAGTTTGCAGCTGCC[C/T]TCTTGACATCCCAAATAAGGAATTC

Phenotype

MIM: 606153 MIM: 612901

Polymorphism

C/T, Transition 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

PRELID3B

Gene Name

PRELI domain containing 3B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256403.1		Intron			NP_001243332.1
NM_016045.2		Intron			NP_057129.2

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

There are no transcripts associated with this gene.

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