Product Details

SNP ID

rs143147517

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:98060945 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCCATGACCAGTACAGGGAGCTGC[A/G]GAGGTACGCCGAGGAGGTTGGGATC

Phenotype

MIM: 605202

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NANS PubMed Links

Gene Details

Gene

NANS

Gene Name

N-acetylneuraminate synthase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018946.3	21	Missense Mutation	CAG,CGG	Q99R	NP_061819.2
XM_011518787.2	21	UTR 5			XP_011517089.1
XM_011518788.2	21	Intron			XP_011517090.1
XM_017014811.1	21	Intron			XP_016870300.1

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