Product Details

SNP ID

rs202045082

Assay Type

Functionally Tested

NCBI dbSNP Submissions

3

Location

Chr.1:52899184 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAAAACCCTCTCACCTCCGTTCCT[C/T]GGTCAATGGCTACTTTGCCCAGCCG

Phenotype

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

ECHDC2 PubMed Links

Additional Information

For this assay, SNP(s) [rs3216045] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

ECHDC2

Gene Name

enoyl-CoA hydratase domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001198961.1	4739	Missense Mutation	CAA,CGA	Q248R	NP_001185890.1
NM_001198962.1	4739	Intron			NP_001185891.1
NM_001319958.1	4739	Missense Mutation	CAA,CGA	Q171R	NP_001306887.1
NM_018281.3	4739	Missense Mutation	CAA,CGA	Q217R	NP_060751.2
XM_011541709.2	4739	Missense Mutation	CAA,CGA	Q248R	XP_011540011.1
XM_011541710.2	4739	Missense Mutation	CAA,CGA	Q248R	XP_011540012.1
XM_011541711.2	4739	Missense Mutation	CAA,CGA	Q217R	XP_011540013.1
XM_011541712.2	4739	Missense Mutation	CAA,CGA	Q248R	XP_011540014.1
XM_011541713.2	4739	Missense Mutation	CAA,CGA	Q202R	XP_011540015.1
XM_011541715.2	4739	Missense Mutation	CAA,CGA	Q202R	XP_011540017.1
XM_011541719.2	4739	Missense Mutation	CAA,CGA	Q202R	XP_011540021.1
XM_011541720.2	4739	Missense Mutation	CAA,CGA	Q202R	XP_011540022.1
XM_011541721.2	4739	Missense Mutation	CAA,CGA	Q202R	XP_011540023.1
XM_011541722.2	4739	Missense Mutation	CAA,CGA	Q202R	XP_011540024.1
XM_011541723.2	4739	Missense Mutation	CAA,CGA	Q202R	XP_011540025.1
XM_011541724.2	4739	Missense Mutation	CAA,CGA	Q198R	XP_011540026.1
XM_011541725.2	4739	Missense Mutation	CAA,CGA	Q217R	XP_011540027.1
XM_011541726.2	4739	Missense Mutation	CAA,CGA	Q171R	XP_011540028.1
XM_011541727.2	4739	Missense Mutation	CAA,CGA	Q152R	XP_011540029.1
XM_017001638.1	4739	Missense Mutation	CAA,CGA	Q202R	XP_016857127.1
XM_017001639.1	4739	Missense Mutation	CAA,CGA	Q202R	XP_016857128.1
XM_017001640.1	4739	Missense Mutation	CAA,CGA	Q202R	XP_016857129.1
XM_017001641.1	4739	Missense Mutation	CAA,CGA	Q202R	XP_016857130.1
XM_017001642.1	4739	Missense Mutation	CAA,CGA	Q171R	XP_016857131.1

Gene

ZYG11A

Gene Name

zyg-11 family member A, cell cycle regulator

There are no transcripts associated with this gene.

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