Product Details

SNP ID
rs188467702
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:72368251 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTTCCTGTGCACATTTCCACATGG[C/T]CTGCATGAGGCGAGTGAAACCCATG
Phenotype
MIM: 605084
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MICU1 PubMed Links

Gene Details

Gene
MICU1
Gene Name
mitochondrial calcium uptake 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001195518.1 1630 Missense Mutation ACC,GCC T459A NP_001182447.1
NM_001195519.1 1630 Missense Mutation ACC,GCC T261A NP_001182448.1
NM_006077.3 1630 Missense Mutation ACC,GCC T461A NP_006068.2
XM_005269383.2 1630 Missense Mutation ACC,GCC T465A XP_005269440.1
XM_005269386.2 1630 Missense Mutation ACC,GCC T231A XP_005269443.1
XM_011539119.1 1630 Missense Mutation ACC,GCC T515A XP_011537421.1

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