Product Details

SNP ID
rs1471983
Assay Type
Validated
NCBI dbSNP Submissions
NA
Location
Chr.3:25788629 on Build GRCh38
Set Membership
Validated
Context Sequence [VIC/FAM]
ATAGCACATTAAAACTGTATGTTTC[T/A]TATGAGTTCAGCTTCAGAGAAAATA
Phenotype
MIM: 610661 MIM: 610324
Polymorphism
T/A, 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 4969 Intron NP_001138765.1
NM_001145294.1 4969 Intron NP_001138766.1
NM_001145295.1 4969 Intron NP_001138767.1
NM_018297.3 4969 Intron NP_060767.2
XM_005265316.1 4969 Intron XP_005265373.1
XM_005265317.1 4969 Intron XP_005265374.1
XM_011533944.1 4969 Intron XP_011532246.1
XM_011533945.2 4969 Intron XP_011532247.1
XM_017006839.1 4969 Intron XP_016862328.1
Gene
OXSM
Gene Name
3-oxoacyl-ACP synthase, mitochondrial
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145391.1 4969 Intron NP_001138863.1
NM_017897.2 4969 Intron NP_060367.1
XM_006713216.3 4969 UTR 5 XP_006713279.1
XM_006713217.3 4969 UTR 5 XP_006713280.1
XM_017006713.1 4969 UTR 5 XP_016862202.1
XM_017006714.1 4969 UTR 5 XP_016862203.1

View Full Product Details