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CGGCCATGGGGCTGCGCAGCGGCAA[C/T]CTGCGGGACAGGTACAGCACAGCGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
5 submissions
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Phenotype: |
MIM: 614127 | ||||||||||||||||||||
Literature Links: |
MARC2 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 |
MARC2 - mitochondrial amidoxime reducing component 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001317338.1 | 547 | Silent Mutation | AAC,AAT | N,N 87 | NP_001304267.1 | |
NM_017898.4 | 547 | Silent Mutation | AAC,AAT | N,N 87 | NP_060368.2 | |
XM_006711407.2 | 547 | Intron | XP_006711470.1 | |||
XM_011509684.1 | 547 | Intron | XP_011507986.1 | |||
XM_017001581.1 | 547 | Silent Mutation | AAC,AAT | N,N 87 | XP_016857070.1 |