Product Details

SNP ID
rs141990459
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:22055183 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCGACAGACCATGATGAAATTGAG[A/C]ATGTGGCCAAACAATTTGGTGCACA
Phenotype
MIM: 603316
Polymorphism
A/C, Transversion Substitution
Allele Nomenclature
Literature Links
CMAS PubMed Links

Gene Details

Gene
CMAS
Gene Name
cytidine monophosphate N-acetylneuraminic acid synthetase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018686.5 425 Missense Mutation AAT,CAT N99H NP_061156.1

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