Product Details

SNP ID
rs2241265
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:71068700 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCAGCAGCATGGCCGCGATCTATG[A/G]GGGTGTAGAGGGGTGAGTGCGGCCC
Phenotype
MIM: 606828
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
NAGK PubMed Links

Gene Details

Gene
NAGK
Gene Name
N-acetylglucosamine kinase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017567.4 39 Missense Mutation GAG,GGG E52G NP_060037.3
XM_005264412.4 39 Intron XP_005264469.1
XM_005264413.1 39 UTR 5 XP_005264470.1
XM_005264415.2 39 UTR 5 XP_005264472.1
XM_011532957.1 39 UTR 5 XP_011531259.1
XM_017004440.1 39 Missense Mutation GAG,GGG E52G XP_016859929.1

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