Product Details

SNP ID
rs200507633
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:1361797 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGTGCTTCAGCCTGGTGGAGTCCA[C/T]GTGAGTGCAGGGTGGGTGCGAGGGT
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_032520.4 316 Missense Mutation ACG,ATG T78M NP_115909.1
XM_017023782.1 316 Missense Mutation ACG,ATG T94M XP_016879271.1
XM_017023783.1 316 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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