Product Details

SNP ID

rs188931759

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:74527016 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGGGCCCAGGAAGACTTGGCAAAT[A/G]TTAGGGCTGTTGGCTGAGGGGTCAC

Phenotype

MIM: 602434 MIM: 606441 MIM: 607163 MIM: 604240

Polymorphism

A/G, 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	1334	Missense Mutation	ACA,ATA	T374I	NP_853553.1
XM_005264392.3	1334	Missense Mutation	ACA,ATA	T431I	XP_005264449.1

Gene

DQX1

Gene Name

DEAQ-box RNA dependent ATPase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_133637.2	1334	Intron			NP_598376.2
XM_011532644.1	1334	Intron			XP_011530946.1
XM_011532645.1	1334	Intron			XP_011530947.1
XM_011532646.2	1334	Intron			XP_011530948.1
XM_017003520.1	1334	Intron			XP_016859009.1

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.

Gene

TLX2

Gene Name

T-cell leukemia homeobox 2

There are no transcripts associated with this gene.

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