Product Details

SNP ID

rs11549272

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:38815697 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTTCACGAGGTCTTGGGTCTGCAG[A/C]ATGCTCATGTTCCAGGACGCCTGGT

Phenotype

MIM: 600696 MIM: 602518

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ECH1 PubMed Links

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	988	Missense Mutation	ATG,ATT	M301I	NP_001389.2
XM_017026448.1	988	Missense Mutation	ATG,ATT	M221I	XP_016881937.1

Gene

LGALS4

Gene Name

galectin 4

There are no transcripts associated with this gene.

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