Product Details

SNP ID
rs201522040
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:25791487 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTGCAATTGGCATGGGAATGATTC[C/G]TCTTGAAGTTGTTTCTGAAACTGCT
Phenotype
MIM: 610661 MIM: 610324
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
NGLY1 PubMed Links

Gene Details

Gene
NGLY1
Gene Name
N-glycanase 1
There are no transcripts associated with this gene.

Gene
OXSM
Gene Name
3-oxoacyl-ACP synthase, mitochondrial
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145391.1 574 Missense Mutation CCT,CGT P156R NP_001138863.1
NM_017897.2 574 Missense Mutation CCT,CGT P156R NP_060367.1
XM_006713216.3 574 Missense Mutation CCT,CGT P156R XP_006713279.1
XM_006713217.3 574 Intron XP_006713280.1
XM_017006713.1 574 Missense Mutation CCT,CGT P156R XP_016862202.1
XM_017006714.1 574 Intron XP_016862203.1

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