Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTTCATGGAGGCTTCCAAGGCAGAC[C/T]GGTAGTCCTGCAGCGGGACCTGGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
3 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 |
---|---|---|
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 |
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 | 1192 | Missense Mutation | CAG,CGG | Q,R 278 | NP_001019903.2 | |
NM_016011.3 | 1192 | Missense Mutation | CAG,CGG | Q,R 354 | NP_057095.3 | |
XM_005245885.2 | 1192 | Missense Mutation | CAG,CGG | Q,R 382 | XP_005245942.1 | |
XM_005245887.2 | 1192 | Missense Mutation | CAG,CGG | Q,R 278 | XP_005245944.1 | |
XM_011541539.1 | 1192 | Missense Mutation | CAG,CGG | Q,R 440 | XP_011539841.1 | |
XM_011541540.1 | 1192 | Missense Mutation | CAG,CGG | Q,R 412 | XP_011539842.1 | |
XM_011541541.1 | 1192 | UTR 3 | XP_011539843.1 | |||
XM_011541543.1 | 1192 | Missense Mutation | CAG,CGG | Q,R 336 | XP_011539845.1 | |
XM_011541545.1 | 1192 | Missense Mutation | CAG,CGG | Q,R 336 | XP_011539847.1 | |
XM_011541546.1 | 1192 | Missense Mutation | CAG,CGG | Q,R 336 | XP_011539848.1 | |
XM_011541547.1 | 1192 | Missense Mutation | CAG,CGG | Q,R 336 | XP_011539849.1 | |
XM_011541549.1 | 1192 | Missense Mutation | CAG,CGG | Q,R 336 | XP_011539851.1 | |
XM_011541550.1 | 1192 | Missense Mutation | CAG,CGG | Q,R 336 | XP_011539852.1 | |
XM_011541553.1 | 1192 | Missense Mutation | CAG,CGG | Q,R 336 | XP_011539855.1 | |
XM_011541554.1 | 1192 | Missense Mutation | CAG,CGG | Q,R 336 | XP_011539856.1 | |
XM_017001411.1 | 1192 | Missense Mutation | CAG,CGG | Q,R 336 | XP_016856900.1 | |
XM_017001412.1 | 1192 | Missense Mutation | CAG,CGG | Q,R 336 | XP_016856901.1 | |
XM_017001413.1 | 1192 | Missense Mutation | CAG,CGG | Q,R 278 | XP_016856902.1 | |
XM_017001414.1 | 1192 | Missense Mutation | CAG,CGG | Q,R 278 | XP_016856903.1 | |
XM_017001415.1 | 1192 | Missense Mutation | CAG,CGG | Q,R 278 | XP_016856904.1 | |
XM_017001416.1 | 1192 | UTR 3 | XP_016856905.1 |