Product Details

SNP ID
rs144479678
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:10280503 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTAAATTCCTTCTGGCCTCGTCAA[C/T]GTAGGGCTTGTCTGCAGGTGAGCAA
Phenotype
MIM: 613379
Polymorphism
C/T, Transition 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 1139 Missense Mutation ATT,GTT I230V NP_620164.1
XM_017009034.1 1139 Missense Mutation ATT,GTT I230V XP_016864523.1
XM_017009035.1 1139 Missense Mutation ATT,GTT I230V XP_016864524.1

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