Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGGAGGACCAGCGGCCACTCACCTG[A/G]TGCTGGCGCTGCGGCTACCTCCACA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609584 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ATP5S 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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ATP5S - ATP synthase, H+ transporting, mitochondrial Fo complex subunit s (factor B) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001003803.2 | 216 | Intron | NP_001003803.1 | |||
NM_001003805.2 | 216 | Intron | NP_001003805.1 | |||
NM_015684.3 | 216 | Intron | NP_056499.2 | |||
XM_005267537.3 | 216 | Intron | XP_005267594.1 | |||
XM_011536649.2 | 216 | Intron | XP_011534951.1 | |||
XM_011536650.2 | 216 | Intron | XP_011534952.1 | |||
XM_011536651.2 | 216 | Intron | XP_011534953.1 | |||
XM_011536652.1 | 216 | Intron | XP_011534954.1 | |||
XM_011536653.2 | 216 | Intron | XP_011534955.1 | |||
XM_011536654.2 | 216 | Intron | XP_011534956.1 | |||
XM_011536655.2 | 216 | Intron | XP_011534957.1 | |||
XM_011536656.2 | 216 | Intron | XP_011534958.1 | |||
XM_011536657.2 | 216 | Intron | XP_011534959.1 | |||
XM_017021220.1 | 216 | Intron | XP_016876709.1 |
L2HGDH - L-2-hydroxyglutarate dehydrogenase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_024884.2 | 216 | Missense Mutation | ACC,ATC | T,I 46 | NP_079160.1 | |
XM_005268075.4 | 216 | Missense Mutation | ACC,ATC | T,I 46 | XP_005268132.1 | |
XM_011537166.2 | 216 | UTR 5 | XP_011535468.1 | |||
XM_011537167.2 | 216 | Intron | XP_011535469.1 | |||
XM_011537168.2 | 216 | Intron | XP_011535470.1 | |||
XM_017021655.1 | 216 | Intron | XP_016877144.1 | |||
XM_017021656.1 | 216 | UTR 5 | XP_016877145.1 | |||
XM_017021657.1 | 216 | UTR 5 | XP_016877146.1 | |||
XM_017021658.1 | 216 | Missense Mutation | ACC,ATC | T,I 46 | XP_016877147.1 |