Product Details

SNP ID
rs55940586
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:52778363 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTTTCTTCAGATACAGTATATCCA[A/G]ACTTTTTATAGAAACCAACATTTTG
Phenotype
MIM: 616510 MIM: 615814
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
GNPNAT1 PubMed Links

Gene Details

Gene
GNPNAT1
Gene Name
glucosamine-phosphate N-acetyltransferase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_198066.3 792 Missense Mutation TCT,TTT S168F NP_932332.1
XM_005268012.2 792 Missense Mutation TCT,TTT S168F XP_005268069.1
XM_006720238.3 792 Missense Mutation TCT,TTT S168F XP_006720301.1
Gene
STYX
Gene Name
serine/threonine/tyrosine interacting protein
There are no transcripts associated with this gene.

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