Product Details

SNP ID
rs117889176
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:25719550 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAAACAGCTGGGTGTGTTGCCAAGC[C/G]ACATCACCATCTCCTCTGCTTAATT
Phenotype
MIM: 610661
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
NGLY1 PubMed Links

Gene Details

Gene
NGLY1
Gene Name
N-glycanase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145293.1 1805 Silent Mutation GTC,GTG V607V NP_001138765.1
NM_001145294.1 1805 Silent Mutation GTC,GTG V583V NP_001138766.1
NM_001145295.1 1805 UTR 3 NP_001138767.1
NM_018297.3 1805 Silent Mutation GTC,GTG V625V NP_060767.2
XM_005265316.1 1805 Silent Mutation GTC,GTG V570V XP_005265373.1
XM_005265317.1 1805 UTR 3 XP_005265374.1
XM_011533944.1 1805 Silent Mutation GTC,GTG V548V XP_011532246.1
XM_011533945.2 1805 Intron XP_011532247.1
XM_017006839.1 1805 Intron XP_016862328.1

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