Product Details

SNP ID

rs193302848

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:1361760 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTCCAGGACCCGTGCATCTCTTC[C/T]GACTCTCGGGCAAGTGCTTCAGCCT

Phenotype

MIM: 607838

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GNPTG PubMed Links

Gene Details

Gene

GNPTG

Gene Name

N-acetylglucosamine-1-phosphate transferase gamma subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032520.4	279	Nonsense Mutation	CGA,TGA	R66*	NP_115909.1
XM_017023782.1	279	Nonsense Mutation	CGA,TGA	R82*	XP_016879271.1
XM_017023783.1	279	UTR 5			XP_016879272.1

Gene

TSR3

Gene Name

TSR3, acp transferase ribosome maturation factor

There are no transcripts associated with this gene.

Gene

UNKL

Gene Name

unkempt family like zinc finger

There are no transcripts associated with this gene.

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