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See other GP1BB CNV Assays ›
Gene Symbol
GP1BB
Assay Reference Genome
Location

Chr.22:19723740 on build GRCh38
Cytoband
22q11.21
Assay ID Hs07512761_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 2812

Gene Name:

 glycoprotein Ib platelet beta subunit

Gene Aliases:

 BDPLT1, BS, CD42C, GPIBB, GPIbbeta

Location:

 Chr.22:19723543-19724774 on Build GRCh38

Assay Gene Location:

 Within Intron 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
GP1BB NM_000407.4 NP_000398.1
J03259.1 AAA52594.1

Target Gene Details

Entrez Gene ID:

 100526833

Gene Name:

 SEPT5-GP1BB readthrough

Gene Aliases:

 -

Location:

 Chr.22:19717220-19724774 on Build GRCh38

Assay Gene Location:

 Within Intron 11
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
SEPT5-GP1BB NR_037611.1
NR_037612.1
AB209168.1 BAD92405.1
L20860.1 1 1146 AAA20398.1
U59632.1 AAB93436.1

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 DGCR8 LINC00896 TBX1 C22orf29 UFD1L MIR6816 LOC440792 DGCR6L RANBP1 LOC101927859 SEPT5-GP1BB MIR4761 TRMT2A MIR1286 CCDC188 LOC284865 COMT CLDN5 GNB1L ZDHHC8 MIR1306 RTN4R CDC45 SEPT5 GP1BB MIR185 MIR3618 LINC00895 TXNRD2 TANGO2 ARVCF
nsv828938 Chr.22:19691069 - 20324465 on Build GRCh38 Gain DGCR8 LINC00896 TBX1 C22orf29 MIR6816 LOC440792 DGCR6L RANBP1 SEPT5-GP1BB MIR4761 TRMT2A MIR1286 CCDC188 LOC284865 COMT GNB1L ZDHHC8 MIR1306 RTN4R SEPT5 GP1BB MIR185 MIR3618 TXNRD2 TANGO2 ARVCF
nsv828943 Chr.22:19720750 - 19797550 on Build GRCh38 Loss SEPT5-GP1BB TBX1 SEPT5 GP1BB GNB1L
esv3647279 Chr.22:19719848 - 19878980 on Build GRCh38 Gain SEPT5-GP1BB TBX1 SEPT5 GP1BB C22orf29 TXNRD2 GNB1L
nsv588216 Chr.22:19086099 - 19839117 on Build GRCh38 Gain TBX1 DGCR2 UFD1L MRPL40 TSSK2 CLTCL1 HIRA SLC25A1 LINC01311 SEPT5-GP1BB C22orf39 CDC45 SEPT5 GP1BB GSC2 LINC00895 CLDN5 DGCR14 GNB1L
nsv834129 Chr.22:19705617 - 19919068 on Build GRCh38 Loss SEPT5-GP1BB TBX1 SEPT5 GP1BB C22orf29 TXNRD2 GNB1L
nsv517478 Chr.22:19703979 - 19817740 on Build GRCh38 Loss SEPT5-GP1BB TBX1 SEPT5 GP1BB GNB1L
dgv725n67 Chr.22:19711970 - 19797426 on Build GRCh38 Gain SEPT5-GP1BB TBX1 SEPT5 GP1BB GNB1L
nsv828939 Chr.22:19696032 - 20324465 on Build GRCh38 Loss DGCR8 LINC00896 TBX1 C22orf29 MIR6816 LOC440792 DGCR6L RANBP1 SEPT5-GP1BB MIR4761 TRMT2A MIR1286 CCDC188 LOC284865 COMT GNB1L ZDHHC8 MIR1306 RTN4R SEPT5 GP1BB MIR185 MIR3618 TXNRD2 TANGO2 ARVCF
nsv953023 Chr.22:19716878 - 19770977 on Build GRCh38 Deletion SEPT5-GP1BB TBX1 SEPT5 GP1BB
nsv834128 Chr.22:19634627 - 19803975 on Build GRCh38 Loss SEPT5-GP1BB TBX1 SEPT5 GP1BB GNB1L
esv2751940 Chr.22:19435727 - 19779259 on Build GRCh38 Gain SEPT5-GP1BB C22orf39 CDC45 TBX1 SEPT5 GP1BB UFD1L LINC00895 MRPL40 CLDN5
esv3575418 Chr.22:18161776 - 19963846 on Build GRCh38 Gain DGCR11 GGT3P TBX1 C22orf29 DGCR2 DGCR6 UFD1L USP18 CLTCL1 HIRA LOC729461 LINC01311 SEPT5-GP1BB C22orf39 LOC100996415 MIR4761 TMEM191B COMT LOC102725072 CLDN5 DGCR14 GNB1L RIMBP3 DGCR9 FAM230A LOC642643 LOC100996432 PI4KAP1 MRPL40 TSSK2 LOC100996401 SLC25A1 DGCR10 PRODH CDC45 SEPT5 GP1BB DGCR5 GSC2 LINC00895 TXNRD2

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