Product Details

SNP ID
rs199719904
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:25720122 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATAGAAATGCTATCTACTTTTAGGC[C/T]AACTGACCCACACTCAAACTTCCAG
Phenotype
MIM: 610661
Polymorphism
C/T, Transition 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 1789 Missense Mutation AGC,GGC S543G NP_001138765.1
NM_001145294.1 1789 Missense Mutation AGC,GGC S519G NP_001138766.1
NM_001145295.1 1789 Intron NP_001138767.1
NM_018297.3 1789 Missense Mutation AGC,GGC S561G NP_060767.2
XM_005265316.1 1789 Missense Mutation AGC,GGC S506G XP_005265373.1
XM_005265317.1 1789 Intron XP_005265374.1
XM_011533944.1 1789 Missense Mutation AGC,GGC S484G XP_011532246.1
XM_011533945.2 1789 Intron XP_011532247.1
XM_017006839.1 1789 Intron XP_016862328.1

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