Hs04090450_cn

• Gene Symbol: TXNRD2
• Assay Reference Genome Location: Chr.22:19876535 on build GRCh38
• Cytoband: 22q11.21

Target Gene Details

• Entrez Gene ID: 10587
• Gene Name: thioredoxin reductase 2
• Gene Aliases: SELZ, TR, TR-BETA, TR3, TRXR2
• Location: Chr.22:19875518-19941992 on Build GRCh38
• Assay Gene Location: Within Intron 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TXNRD2	NM_006440.4			NP_006431.2
	AB019694.1			BAA77601.2
	AB019695.1			BAA77602.2
	AB209724.1			BAD92961.1
	AF044212.1			AAD25167.1
	AF106697.1			AAD19597.1
	AF166126.1			AAF21431.1
	AF166127.1			AAF21432.1
	AF171054.1			AAD51324.1
	AF201385.1	17	2142	AAG47635.1
	AK094698.1	5	1689
	AK097708.1
	BC007489.2			AAH07489.3
	BC117354.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv834129	Chr.22:19705617 - 19919068 on Build GRCh38	Loss	GNB1L SEPT5 SEPT5-GP1BB TBX1 C22orf29 GP1BB TXNRD2
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	MIR1286 SEPT5-GP1BB ZDHHC8 UFD1L ARVCF C22orf29 LOC284865 COMT DGCR6L GP1BB MIR4761 LINC00895 LOC101927859 RTN4R CCDC188 DGCR8 RANBP1 TXNRD2 MIR185 TBX1 TRMT2A GNB1L SEPT5 CDC45 LINC00896 MIR1306 MIR6816 LOC440792 CLDN5 MIR3618 TANGO2
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	MIR1286 SEPT5-GP1BB ZDHHC8 ARVCF C22orf29 LOC284865 COMT DGCR6L GP1BB MIR4761 RTN4R CCDC188 DGCR8 RANBP1 TXNRD2 MIR185 TBX1 TRMT2A GNB1L SEPT5 LINC00896 MIR1306 MIR6816 LOC440792 MIR3618 TANGO2
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	MIR1286 SEPT5-GP1BB ZDHHC8 ARVCF C22orf29 LOC284865 COMT DGCR6L GP1BB MIR4761 RTN4R CCDC188 DGCR8 RANBP1 TXNRD2 MIR185 TBX1 TRMT2A GNB1L SEPT5 LINC00896 MIR1306 MIR6816 LOC440792 MIR3618 TANGO2
nsv834130	Chr.22:19837923 - 19940567 on Build GRCh38	Loss	GNB1L C22orf29 TXNRD2
nsv515664	Chr.22:19873352 - 19892114 on Build GRCh38	Loss	TXNRD2
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	GNB1L TBX1 C22orf29 TXNRD2
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	GNB1L SEPT5 SEPT5-GP1BB TBX1 C22orf29 GP1BB TXNRD2
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	SEPT5-GP1BB TSSK2 LOC642643 UFD1L C22orf29 COMT LOC729461 GP1BB MIR4761 LOC102725072 LINC00895 DGCR11 TMEM191B DGCR10 GSC2 TXNRD2 LOC100996432 DGCR2 RIMBP3 GGT3P DGCR14 USP18 LOC100996401 TBX1 SLC25A1 CLTCL1 C22orf39 FAM230A HIRA LOC100996415 DGCR5 GNB1L SEPT5 CDC45 DGCR9 CLDN5 PRODH PI4KAP1 DGCR6 MRPL40 LINC01311
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	MIR1286 ZDHHC8 MIR185 ARVCF TBX1 C22orf29 LOC284865 COMT DGCR6L TRMT2A MIR4761 GNB1L LINC00896 MIR1306 MIR6816 LOC440792 RTN4R CCDC188 DGCR8 MIR3618 RANBP1 TXNRD2 TANGO2
nsv953025	Chr.22:19869078 - 19937977 on Build GRCh38	Deletion	TXNRD2

More Information

Additional Information:

For this assay, SNP(s) [rs73877383] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

reductase

Gene Ontology Categories:

Process(es)

response to reactive oxygen species
response to oxygen radical
cell redox homeostasis
oxidation-reduction process
cellular oxidant detoxification

Function(s)

thioredoxin-disulfide reductase activity
protein binding
flavin adenine dinucleotide binding