Product Details

SNP ID

rs138752223

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:74527747 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGAGACCACATACCTGACTGGGGG[C/T]GCAATCTGGGGTGTCTTTGTCGCTT

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	1043	Missense Mutation	CAC,CGC	H277R	NP_853553.1
XM_005264392.3	1043	Missense Mutation	CAC,CGC	H334R	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

There are no transcripts associated with this gene.

Gene

LOXL3

Gene Name

lysyl oxidase like 3

There are no transcripts associated with this gene.

View Full Product Details