Product Details

SNP ID

rs192453247

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:52778364 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTCTTCAGATACAGTATATCCAA[A/C]CTTTTTATAGAAACCAACATTTTGT

Phenotype

MIM: 616510 MIM: 615814

Polymorphism

A/C, Transversion 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	791	Missense Mutation	GTT,TTT	V168F	NP_932332.1
XM_005268012.2	791	Missense Mutation	GTT,TTT	V168F	XP_005268069.1
XM_006720238.3	791	Missense Mutation	GTT,TTT	V168F	XP_006720301.1

Gene

STYX

Gene Name

serine/threonine/tyrosine interacting protein

There are no transcripts associated with this gene.

View Full Product Details