Product Details

SNP ID

rs140344263

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:22046499 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCCCCCTGAAGAACATTAAGCAC[C/T]TGGCGGGGGTCCCGCTCATTGGCTG

Phenotype

MIM: 603316

Polymorphism

C/T, Transition 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	326	Silent Mutation	CTG,TTG	L66L	NP_061156.1

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