accessibility menu, dialog, popup

UserName
Viewing profile as user:

Please enter the information below and press OK to send your cart to Core Services for purchase.

    

System Message

OKCancel
LOADING ...
See other TBX1 CNV Assays ›
Gene Symbol
TBX1
Assay Reference Genome
Location

Chr.22:19759106 on build GRCh38
Cytoband
22q11.21
Assay ID Hs04080423_cn
Size
Availability Made To Order
Catalog # 4400291
Price
Your Price
Online offer:
Check your price ›

Assay Details

Target Gene Details

Entrez Gene ID:

 6899

Gene Name:

 T-box 1

Gene Aliases:

 CAFS, CATCH22, CTHM, DGCR, DGS, DORV, TBX1C, TGA, VCF, VCFS

Location:

 Chr.22:19756703-19783593 on Build GRCh38

Assay Gene Location:

 Within Intron 2
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
TBX1 NM_005992.1 NP_005983.1
NM_080646.1 NP_542377.1
NM_080647.1 NP_542378.1
XM_006724312.2 XP_006724375.1
XM_017028926.1 XP_016884415.1
AF012130.1 AAB94018.1
AF012131.1 AAB94019.1
AF373867.1 AAK58955.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv3893434 Chr.22:19470889 - 20343372 on Build GRCh38 Gain MIR6816 MIR1306 SEPT5-GP1BB DGCR8 GP1BB TXNRD2 UFD1L CDC45 LINC00895 MIR185 LOC101927859 LOC284865 ARVCF TANGO2 DGCR6L SEPT5 MIR1286 CLDN5 COMT MIR3618 MIR4761 ZDHHC8 RTN4R GNB1L RANBP1 TBX1 CCDC188 C22orf29 LINC00896 TRMT2A LOC440792
nsv828938 Chr.22:19691069 - 20324465 on Build GRCh38 Gain MIR6816 MIR1306 SEPT5-GP1BB DGCR8 GP1BB TXNRD2 MIR185 LOC284865 ARVCF TANGO2 DGCR6L SEPT5 MIR1286 COMT MIR3618 MIR4761 ZDHHC8 RTN4R GNB1L RANBP1 TBX1 CCDC188 C22orf29 LINC00896 TRMT2A LOC440792
dgv7982n54 Chr.22:19750832 - 19770876 on Build GRCh38 Loss TBX1
nsv828943 Chr.22:19720750 - 19797550 on Build GRCh38 Loss GP1BB GNB1L SEPT5 SEPT5-GP1BB TBX1
esv3647279 Chr.22:19719848 - 19878980 on Build GRCh38 Gain GP1BB GNB1L SEPT5 TXNRD2 SEPT5-GP1BB TBX1 C22orf29
nsv588216 Chr.22:19086099 - 19839117 on Build GRCh38 Gain MRPL40 TSSK2 SEPT5 SEPT5-GP1BB DGCR2 CLDN5 SLC25A1 GP1BB C22orf39 GNB1L UFD1L HIRA CDC45 TBX1 LINC01311 LINC00895 CLTCL1 DGCR14 GSC2
nsv588231 Chr.22:19743069 - 19760950 on Build GRCh38 Loss TBX1
esv3575428 Chr.22:19732005 - 19767158 on Build GRCh38 Gain TBX1
nsv834129 Chr.22:19705617 - 19919068 on Build GRCh38 Loss GP1BB GNB1L SEPT5 TXNRD2 SEPT5-GP1BB TBX1 C22orf29
nsv517478 Chr.22:19703979 - 19817740 on Build GRCh38 Loss GP1BB GNB1L SEPT5 SEPT5-GP1BB TBX1
dgv725n67 Chr.22:19711970 - 19797426 on Build GRCh38 Gain GP1BB GNB1L SEPT5 SEPT5-GP1BB TBX1
nsv828939 Chr.22:19696032 - 20324465 on Build GRCh38 Loss MIR6816 MIR1306 SEPT5-GP1BB DGCR8 GP1BB TXNRD2 MIR185 LOC284865 ARVCF TANGO2 DGCR6L SEPT5 MIR1286 COMT MIR3618 MIR4761 ZDHHC8 RTN4R GNB1L RANBP1 TBX1 CCDC188 C22orf29 LINC00896 TRMT2A LOC440792
nsv471181 Chr.22:19729797 - 19815256 on Build GRCh38 Loss GNB1L TBX1
nsv953023 Chr.22:19716878 - 19770977 on Build GRCh38 Deletion GP1BB SEPT5 SEPT5-GP1BB TBX1
nsv834128 Chr.22:19634627 - 19803975 on Build GRCh38 Loss GP1BB GNB1L SEPT5 SEPT5-GP1BB TBX1
nsv828946 Chr.22:19753679 - 19768165 on Build GRCh38 Gain TBX1
esv2751940 Chr.22:19435727 - 19779259 on Build GRCh38 Gain MRPL40 GP1BB C22orf39 SEPT5 UFD1L SEPT5-GP1BB CDC45 TBX1 CLDN5 LINC00895
esv3575418 Chr.22:18161776 - 19963846 on Build GRCh38 Gain MRPL40 DGCR11 SEPT5-GP1BB LOC102725072 SLC25A1 PI4KAP1 GP1BB LOC100996401 LOC100996432 TMEM191B TXNRD2 UFD1L CDC45 FAM230A LINC00895 LOC729461 DGCR10 TSSK2 PRODH SEPT5 DGCR2 RIMBP3 GGT3P CLDN5 COMT MIR4761 USP18 DGCR5 DGCR6 LOC100996415 C22orf39 GNB1L DGCR9 HIRA LOC642643 TBX1 LINC01311 C22orf29 CLTCL1 DGCR14 GSC2
nsv588235 Chr.22:19757169 - 19762002 on Build GRCh38 Loss TBX1

Back To Top

More Information


Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Panther Classification:

Gene Ontology Categories:

Function(s) Process(es)


Back To Top

Related Products