Product Details

SNP ID

rs1873099

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.3:25724252 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

ACACTCTTAAAATTATTGTTCTACT[G/T]AGGCTGCTAAGATTCACTCAAGTTC

Phenotype

MIM: 610661

Polymorphism

G/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		Intron			NP_001138765.1
NM_001145294.1		Intron			NP_001138766.1
NM_001145295.1		Intron			NP_001138767.1
NM_018297.3		Intron			NP_060767.2
XM_005265316.1		Intron			XP_005265373.1
XM_005265317.1		Intron			XP_005265374.1
XM_011533944.1		Intron			XP_011532246.1
XM_011533945.2		Intron			XP_011532247.1
XM_017006839.1		Intron			XP_016862328.1

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