Product Details
- SNP ID
-
rs201363919
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
2
- Location
-
Chr.1:29194138 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCAGGGGCTGTGAGCTGGCCTCGGC[A/G]GATGAGATCGCACAGTGTGAGGATC
- Phenotype
-
MIM: 608205
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
MECR
PubMed Links
Gene Details
- Gene
- MECR
- Gene Name
- mitochondrial trans-2-enoyl-CoA reductase
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001024732.2 |
1137 |
Missense Mutation |
CGC,TGC |
R260C |
NP_001019903.2 |
NM_016011.3 |
1137 |
Missense Mutation |
CGC,TGC |
R336C |
NP_057095.3 |
XM_005245885.2 |
1137 |
Missense Mutation |
CGC,TGC |
R364C |
XP_005245942.1 |
XM_005245887.2 |
1137 |
Missense Mutation |
CGC,TGC |
R260C |
XP_005245944.1 |
XM_011541539.1 |
1137 |
Missense Mutation |
CGC,TGC |
R422C |
XP_011539841.1 |
XM_011541540.1 |
1137 |
Missense Mutation |
CGC,TGC |
R394C |
XP_011539842.1 |
XM_011541541.1 |
1137 |
UTR 3 |
|
|
XP_011539843.1 |
XM_011541543.1 |
1137 |
Missense Mutation |
CGC,TGC |
R318C |
XP_011539845.1 |
XM_011541545.1 |
1137 |
Missense Mutation |
CGC,TGC |
R318C |
XP_011539847.1 |
XM_011541546.1 |
1137 |
Missense Mutation |
CGC,TGC |
R318C |
XP_011539848.1 |
XM_011541547.1 |
1137 |
Missense Mutation |
CGC,TGC |
R318C |
XP_011539849.1 |
XM_011541549.1 |
1137 |
Missense Mutation |
CGC,TGC |
R318C |
XP_011539851.1 |
XM_011541550.1 |
1137 |
Missense Mutation |
CGC,TGC |
R318C |
XP_011539852.1 |
XM_011541553.1 |
1137 |
Missense Mutation |
CGC,TGC |
R318C |
XP_011539855.1 |
XM_011541554.1 |
1137 |
Missense Mutation |
CGC,TGC |
R318C |
XP_011539856.1 |
XM_017001411.1 |
1137 |
Missense Mutation |
CGC,TGC |
R318C |
XP_016856900.1 |
XM_017001412.1 |
1137 |
Missense Mutation |
CGC,TGC |
R318C |
XP_016856901.1 |
XM_017001413.1 |
1137 |
Missense Mutation |
CGC,TGC |
R260C |
XP_016856902.1 |
XM_017001414.1 |
1137 |
Missense Mutation |
CGC,TGC |
R260C |
XP_016856903.1 |
XM_017001415.1 |
1137 |
Missense Mutation |
CGC,TGC |
R260C |
XP_016856904.1 |
XM_017001416.1 |
1137 |
UTR 3 |
|
|
XP_016856905.1 |
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