Product Details

SNP ID
rs4476280
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:1244280 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GGGACCAGGAGCCGGGCTGGGGTCG[C/T]TGCTGGCCCCTCACCGCCCCTCAAC
Phenotype
MIM: 603150 MIM: 606700
Polymorphism
C/T, Transition 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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