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SNP ID

rs62226670

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:33907300 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTTCCTGCAAAAGGTGACACATG[C/T]AATATCAAGGCAAACACAGCAGCAA

Phenotype

MIM: 600828 MIM: 602442

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATP5O PubMed Links

Gene Details

Gene

ATP5O

Gene Name

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001697.2		Intron			NP_001688.1

Gene

ITSN1

Gene Name

intersectin 1

There are no transcripts associated with this gene.

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