Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TGCTGGGGTCTTCTCCACAAGGTTA[C/T]GGACAAATGGAGCCATGGTTCTGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613213 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ATP5L2 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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ATP5L2 - ATP synthase, H+ transporting, mitochondrial Fo complex subunit G2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001165877.1 | 344 | Missense Mutation | CAT,CGT | H,R 6 | NP_001159349.1 |
CYB5R3 - cytochrome b5 reductase 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000398.6 | 344 | Intron | NP_000389.1 | |||
NM_001129819.2 | 344 | Intron | NP_001123291.1 | |||
NM_001171660.1 | 344 | Intron | NP_001165131.1 | |||
NM_001171661.1 | 344 | Intron | NP_001165132.1 | |||
NM_007326.4 | 344 | Intron | NP_015565.1 |