Product Details

SNP ID
rs79972650
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:133357382 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGAGGTCTCAGGTCAGCCAGTTGG[G/A]CGCCCCCACCGCCGACCGGCCGCAG
Phenotype
MIM: 602292 MIM: 609776
Polymorphism
G/A, Transition substitution
Allele Nomenclature
Literature Links
ECHS1 PubMed Links

Gene Details

Gene
ECHS1
Gene Name
enoyl-CoA hydratase, short chain 1
There are no transcripts associated with this gene.

Gene
FUOM
Gene Name
fucose mutarotase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001098483.2 181 Intron NP_001091953.1
NM_001301827.1 181 Intron NP_001288756.1
NM_001301828.1 181 UTR 5 NP_001288757.1
NM_198472.2 181 Intron NP_940874.2
XM_011539670.2 181 Intron XP_011537972.1
XM_011539671.2 181 Intron XP_011537973.1
XM_011539672.2 181 Intron XP_011537974.1
XM_011539673.2 181 Intron XP_011537975.1
XM_011539674.2 181 Intron XP_011537976.1
XM_011539675.2 181 Intron XP_011537977.1
XM_017016094.1 181 UTR 5 XP_016871583.1
Gene
PRAP1
Gene Name
proline rich acidic protein 1
There are no transcripts associated with this gene.

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