Product Details

SNP ID

rs199700435

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:38815898 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCGGCCACCGAATGGTCGCGGGAAT[A/T]CAGCAGGTTGACCTTGGTGCTCTGC

Phenotype

MIM: 600696 MIM: 602518

Polymorphism

A/T, Transversion Substitution

Allele Nomenclature

Literature Links

ECH1 PubMed Links

Additional Information

For this assay, SNP(s) [rs58750431] are located under a probe 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

ECH1

Gene Name

enoyl-CoA hydratase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001398.2	926	Missense Mutation	AAT,TAT	N281Y	NP_001389.2
XM_017026448.1	926	Missense Mutation	AAT,TAT	N201Y	XP_016881937.1

Gene

LGALS4

Gene Name

galectin 4

There are no transcripts associated with this gene.

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