Product Details

SNP ID

rs200714705

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:29194117 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCAGCGGGACCTGGGAGCAGGCAG[C/G]GGCTGTGAGCTGGCCTCGGCGGATG

Phenotype

MIM: 608205

Polymorphism

C/G, Transversion 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	1158	Missense Mutation	CCT,GCT	P267A	NP_001019903.2
NM_016011.3	1158	Missense Mutation	CCT,GCT	P343A	NP_057095.3
XM_005245885.2	1158	Missense Mutation	CCT,GCT	P371A	XP_005245942.1
XM_005245887.2	1158	Missense Mutation	CCT,GCT	P267A	XP_005245944.1
XM_011541539.1	1158	Missense Mutation	CCT,GCT	P429A	XP_011539841.1
XM_011541540.1	1158	Missense Mutation	CCT,GCT	P401A	XP_011539842.1
XM_011541541.1	1158	UTR 3			XP_011539843.1
XM_011541543.1	1158	Missense Mutation	CCT,GCT	P325A	XP_011539845.1
XM_011541545.1	1158	Missense Mutation	CCT,GCT	P325A	XP_011539847.1
XM_011541546.1	1158	Missense Mutation	CCT,GCT	P325A	XP_011539848.1
XM_011541547.1	1158	Missense Mutation	CCT,GCT	P325A	XP_011539849.1
XM_011541549.1	1158	Missense Mutation	CCT,GCT	P325A	XP_011539851.1
XM_011541550.1	1158	Missense Mutation	CCT,GCT	P325A	XP_011539852.1
XM_011541553.1	1158	Missense Mutation	CCT,GCT	P325A	XP_011539855.1
XM_011541554.1	1158	Missense Mutation	CCT,GCT	P325A	XP_011539856.1
XM_017001411.1	1158	Missense Mutation	CCT,GCT	P325A	XP_016856900.1
XM_017001412.1	1158	Missense Mutation	CCT,GCT	P325A	XP_016856901.1
XM_017001413.1	1158	Missense Mutation	CCT,GCT	P267A	XP_016856902.1
XM_017001414.1	1158	Missense Mutation	CCT,GCT	P267A	XP_016856903.1
XM_017001415.1	1158	Missense Mutation	CCT,GCT	P267A	XP_016856904.1
XM_017001416.1	1158	UTR 3			XP_016856905.1

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