Product Details

SNP ID
rs148875965
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.10:133362915 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTCTCTTTTCCACAAACGCGGTCA[G/T]CCCTTCTTTCCGGTCATCCTGGCAG
Phenotype
MIM: 602292
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
ECHS1 PubMed Links

Gene Details

Gene
ECHS1
Gene Name
enoyl-CoA hydratase, short chain 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004092.3 897 Missense Mutation ATG,CTG M276L NP_004083.3
Gene
FUOM
Gene Name
fucose mutarotase
There are no transcripts associated with this gene.

Gene
MIR3944
Gene Name
microRNA 3944
There are no transcripts associated with this gene.

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