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GGACCTGCAGGCCCAAGGGACTTAC[A/G]CTAACTGCCGCAGCAGCTCTGTGGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
21 submissions
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Phenotype: |
MIM: 608205 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MECR 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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MECR - mitochondrial trans-2-enoyl-CoA reductase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001024732.2 | 932 | Missense Mutation | GCG,GTG | A,V 201 | NP_001019903.2 | |
NM_016011.3 | 932 | Missense Mutation | GCG,GTG | A,V 277 | NP_057095.3 | |
XM_005245885.2 | 932 | Missense Mutation | GCG,GTG | A,V 305 | XP_005245942.1 | |
XM_005245887.2 | 932 | Missense Mutation | GCG,GTG | A,V 201 | XP_005245944.1 | |
XM_011541539.1 | 932 | Silent Mutation | AGC,AGT | S,S 353 | XP_011539841.1 | |
XM_011541540.1 | 932 | Silent Mutation | AGC,AGT | S,S 325 | XP_011539842.1 | |
XM_011541541.1 | 932 | Missense Mutation | GCG,GTG | A,V 305 | XP_011539843.1 | |
XM_011541543.1 | 932 | Silent Mutation | AGC,AGT | S,S 249 | XP_011539845.1 | |
XM_011541545.1 | 932 | Silent Mutation | AGC,AGT | S,S 249 | XP_011539847.1 | |
XM_011541546.1 | 932 | Silent Mutation | AGC,AGT | S,S 249 | XP_011539848.1 | |
XM_011541547.1 | 932 | Silent Mutation | AGC,AGT | S,S 249 | XP_011539849.1 | |
XM_011541549.1 | 932 | Silent Mutation | AGC,AGT | S,S 249 | XP_011539851.1 | |
XM_011541550.1 | 932 | Silent Mutation | AGC,AGT | S,S 249 | XP_011539852.1 | |
XM_011541553.1 | 932 | Silent Mutation | AGC,AGT | S,S 249 | XP_011539855.1 | |
XM_011541554.1 | 932 | Silent Mutation | AGC,AGT | S,S 249 | XP_011539856.1 | |
XM_017001411.1 | 932 | Silent Mutation | AGC,AGT | S,S 249 | XP_016856900.1 | |
XM_017001412.1 | 932 | Silent Mutation | AGC,AGT | S,S 249 | XP_016856901.1 | |
XM_017001413.1 | 932 | Missense Mutation | GCG,GTG | A,V 201 | XP_016856902.1 | |
XM_017001414.1 | 932 | Missense Mutation | GCG,GTG | A,V 201 | XP_016856903.1 | |
XM_017001415.1 | 932 | Missense Mutation | GCG,GTG | A,V 201 | XP_016856904.1 | |
XM_017001416.1 | 932 | Missense Mutation | GCG,GTG | A,V 201 | XP_016856905.1 |