Product Details

SNP ID

rs114925063

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.3:185192332 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATAGTCACTTGGCTCCAGTTGGGGA[A/G]TATCAGGGTTCTGCCTGTAATATTT

Phenotype

MIM: 607037

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

EHHADH PubMed Links

Additional Information

For this assay, SNP(s) [rs11927618] 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

EHHADH

Gene Name

enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001166415.1	2124	Missense Mutation	ACT,ATT	T593I	NP_001159887.1
NM_001966.3	2124	Missense Mutation	ACT,ATT	T689I	NP_001957.2
XM_006713525.1	2124	Missense Mutation	ACT,ATT	T481I	XP_006713588.1
XM_011512517.1	2124	Missense Mutation	ACT,ATT	T593I	XP_011510819.1
XM_017005839.1	2124	Missense Mutation	ACT,ATT	T481I	XP_016861328.1

Gene

EHHADH-AS1

Gene Name

EHHADH antisense RNA 1

There are no transcripts associated with this gene.

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