Product Details

SNP ID

rs28587163

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:25788393 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGGGTAGGATAAGCAGAGCCCAT[A/T]TGAAGATTTTGGTGCAAGAAGACAC

Phenotype

MIM: 610661 MIM: 610324

Polymorphism

A/T, 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	4733	Intron			NP_001138765.1
NM_001145294.1	4733	Intron			NP_001138766.1
NM_001145295.1	4733	Intron			NP_001138767.1
NM_018297.3	4733	Intron			NP_060767.2
XM_005265316.1	4733	Intron			XP_005265373.1
XM_005265317.1	4733	Intron			XP_005265374.1
XM_011533944.1	4733	Intron			XP_011532246.1
XM_011533945.2	4733	Intron			XP_011532247.1
XM_017006839.1	4733	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	4733	Intron			NP_001138863.1
NM_017897.2	4733	Intron			NP_060367.1
XM_006713216.3	4733	UTR 5			XP_006713279.1
XM_006713217.3	4733	UTR 5			XP_006713280.1
XM_017006713.1	4733	UTR 5			XP_016862202.1
XM_017006714.1	4733	UTR 5			XP_016862203.1

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