Product Details

SNP ID
rs182773279
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:10280458 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGCTTGCCCTTGATTCTTGCTACA[G/T]GTACTTGTTCAGCCACTCAATTAAA
Phenotype
MIM: 613379
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CMBL PubMed Links

Gene Details

Gene
CMBL
Gene Name
carboxymethylenebutenolidase homolog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_138809.3 1184 Missense Mutation ATG,CTG M245L NP_620164.1
XM_017009034.1 1184 Missense Mutation ATG,CTG M245L XP_016864523.1
XM_017009035.1 1184 Missense Mutation ATG,CTG M245L XP_016864524.1

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