Product Details

SNP ID
rs142653321
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:25791262 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTGTTTCACTGGTTGGTGAAGAGT[A/G]TAAGAGTATCCCTTGCAGTGTTGCT
Phenotype
MIM: 610661 MIM: 610324
Polymorphism
A/G, Transition 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_001145391.1 349 Missense Mutation TAT,TGT Y81C NP_001138863.1
NM_017897.2 349 Missense Mutation TAT,TGT Y81C NP_060367.1
XM_006713216.3 349 Missense Mutation TAT,TGT Y81C XP_006713279.1
XM_006713217.3 349 UTR 5 XP_006713280.1
XM_017006713.1 349 Missense Mutation TAT,TGT Y81C XP_016862202.1
XM_017006714.1 349 UTR 5 XP_016862203.1

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