Product Details

SNP ID

rs144521764

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:38815670 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTTGTTCTCAGTCGTGGCCTGGAC[C/T]GACTTCACGAGGTCTTGGGTCTGCA

Phenotype

MIM: 600696 MIM: 602518

Polymorphism

C/T, Transition 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	1015	Silent Mutation	TCA,TCG	S310S	NP_001389.2
XM_017026448.1	1015	Silent Mutation	TCA,TCG	S230S	XP_016881937.1

Gene

LGALS4

Gene Name

galectin 4

There are no transcripts associated with this gene.

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