Product Details

SNP ID
rs11543261
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:72692272 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCTTCCCTGGGCTGGGCGTCAGC[A/C]GCCACCGGCAGCAGCAGCACCACCG
Phenotype
MIM: 614197
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
MCU PubMed Links

Gene Details

Gene
MCU
Gene Name
mitochondrial calcium uniporter
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001270679.1 142 Missense Mutation AGC,CGC S41R NP_001257608.1
NM_001270680.1 142 Intron NP_001257609.1
NM_138357.2 142 Missense Mutation AGC,CGC S41R NP_612366.1
XM_017016882.1 142 Intron XP_016872371.1

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