Product Details

SNP ID

rs201711130

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:74529161 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTACAGGTGGTAAGCAAATTGACTA[C/T]GTTGTGGTCGAAAGGTGTCACATGG

Phenotype

MIM: 602434 MIM: 606441 MIM: 607163

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AUP1 PubMed Links

Gene Details

Gene

AUP1

Gene Name

ancient ubiquitous protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_181575.4	523	Missense Mutation	ATA,GTA	I104V	NP_853553.1
XM_005264392.3	523	Missense Mutation	ATA,GTA	I161V	XP_005264449.1

Gene

DQX1

Gene Name

DEAQ-box RNA dependent ATPase 1

There are no transcripts associated with this gene.

Gene

HTRA2

Gene Name

HtrA serine peptidase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321727.1	523	Intron			NP_001308656.1
NM_001321728.1	523	Intron			NP_001308657.1
NM_013247.4	523	Intron			NP_037379.1
NM_145074.2	523	Intron			NP_659540.1

Gene

LOXL3

Gene Name

lysyl oxidase like 3

There are no transcripts associated with this gene.

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