Product Details

SNP ID

rs7621398

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:25720062 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GTATCAGATCGCAATTTCCATTCTA[C/T]TGTTCCAGTCTGAAAAGTTTGACTA

Phenotype

MIM: 610661

Polymorphism

C/T, Transition 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	1849	Missense Mutation	ATA,GTA	I563V	NP_001138765.1
NM_001145294.1	1849	Missense Mutation	ATA,GTA	I539V	NP_001138766.1
NM_001145295.1	1849	Intron			NP_001138767.1
NM_018297.3	1849	Missense Mutation	ATA,GTA	I581V	NP_060767.2
XM_005265316.1	1849	Missense Mutation	ATA,GTA	I526V	XP_005265373.1
XM_005265317.1	1849	Intron			XP_005265374.1
XM_011533944.1	1849	Missense Mutation	ATA,GTA	I504V	XP_011532246.1
XM_011533945.2	1849	Intron			XP_011532247.1
XM_017006839.1	1849	Intron			XP_016862328.1

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