Product Details

SNP ID

rs199957467

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:22055575 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATTCTGTTTTCTCTGTTGTGAGAC[A/G]CCATCAGTTTCGATGGAGTGAAATT

Phenotype

MIM: 603316

Polymorphism

A/G, 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	654	Missense Mutation	CAC,CGC	H175R	NP_061156.1

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