Product Details

SNP ID

rs200614465

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:52778328 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAGATTTTTACTTTAGAAACCTCC[C/G]ACACATGTAGTTTTCTTCAGATACA

Phenotype

MIM: 616510 MIM: 615814

Polymorphism

C/G, 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	827	Missense Mutation	CGG,GGG	R180G	NP_932332.1
XM_005268012.2	827	Missense Mutation	CGG,GGG	R180G	XP_005268069.1
XM_006720238.3	827	Missense Mutation	CGG,GGG	R180G	XP_006720301.1

Gene

STYX

Gene Name

serine/threonine/tyrosine interacting protein

There are no transcripts associated with this gene.

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