Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTGCTTCCCTGGGCTGGGCGTCAGC[A/C]GCCACCGGCAGCAGCAGCACCACCG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614197 | ||||||||||||||||||||
Literature Links: |
MCU PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
MCU - mitochondrial calcium uniporter | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001270679.1 | 142 | Missense Mutation | AGC,CGC | S,R 41 | NP_001257608.1 | |
NM_001270680.1 | 142 | Intron | NP_001257609.1 | |||
NM_138357.2 | 142 | Missense Mutation | AGC,CGC | S,R 41 | NP_612366.1 | |
XM_017016882.1 | 142 | Intron | XP_016872371.1 |