Product Details

SNP ID

rs143462383

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:118401700 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTGTCCGTAACCTTGTGGAGAAGA[A/C]CCCGGCGCTGGTGAACGGTGAGCGC

Phenotype

MIM: 603753

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ATP5L PubMed Links

Gene Details

Gene

ATP5L

Gene Name

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006476.4	312	Missense Mutation	AAC,ACC	N12T	NP_006467.4

Gene

LOC100131626

Gene Name

uncharacterized LOC100131626

There are no transcripts associated with this gene.

Gene

UBE4A

Gene Name

ubiquitination factor E4A

There are no transcripts associated with this gene.

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