Product Details

SNP ID

rs2277747

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:1244080 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTTTGGGGTCTCACGCCTTCCCC[A/C]CGCCCCATTCCCCCAGTGAGCAGCG

Phenotype

MIM: 603150 MIM: 606700

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ATP5D PubMed Links

Gene Details

Gene

ATP5D

Gene Name

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001001975.1		Intron			NP_001001975.1
NM_001687.4		Intron			NP_001678.1

Gene

CBARP

Gene Name

CACN beta subunit associated regulatory protein

There are no transcripts associated with this gene.

Gene

MIDN

Gene Name

midnolin

There are no transcripts associated with this gene.

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