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

Chr.22:19724522 on build GRCh38
Cytoband
22q11.21
Assay ID Hs07512673_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 Exon 2
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
GP1BB NM_000407.4 2 706 NP_000398.1
J03259.1 2 701 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 Exon 12
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
SEPT5-GP1BB NR_037611.1 12 4419
NR_037612.1 12 2923
L20860.1 1 1928 AAA20398.1
U59632.1 12 2922 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 ARVCF RTN4R CCDC188 MIR3618 ZDHHC8 C22orf29 UFD1L COMT TBX1 LOC101927859 TANGO2 DGCR8 CLDN5 MIR6816 SEPT5 MIR185 DGCR6L MIR4761 TRMT2A LINC00895 RANBP1 SEPT5-GP1BB LINC00896 MIR1306 GP1BB GNB1L TXNRD2 CDC45 LOC440792 LOC284865 MIR1286
nsv828938 Chr.22:19691069 - 20324465 on Build GRCh38 Gain ARVCF RTN4R CCDC188 MIR3618 ZDHHC8 C22orf29 COMT TBX1 TANGO2 DGCR8 MIR6816 SEPT5 MIR185 DGCR6L MIR4761 TRMT2A RANBP1 SEPT5-GP1BB LINC00896 MIR1306 GP1BB GNB1L TXNRD2 LOC440792 LOC284865 MIR1286
nsv828943 Chr.22:19720750 - 19797550 on Build GRCh38 Loss TBX1 GP1BB GNB1L SEPT5 SEPT5-GP1BB
esv3647279 Chr.22:19719848 - 19878980 on Build GRCh38 Gain TBX1 GP1BB GNB1L SEPT5 C22orf29 TXNRD2 SEPT5-GP1BB
esv22571 Chr.22:19723976 - 19728431 on Build GRCh38 Loss GP1BB SEPT5-GP1BB
nsv588216 Chr.22:19086099 - 19839117 on Build GRCh38 Gain DGCR2 LINC00895 DGCR14 MRPL40 UFD1L SEPT5-GP1BB TBX1 CLDN5 GP1BB GNB1L SEPT5 C22orf39 CDC45 GSC2 TSSK2 LINC01311 CLTCL1 SLC25A1 HIRA
nsv834129 Chr.22:19705617 - 19919068 on Build GRCh38 Loss TBX1 GP1BB GNB1L SEPT5 C22orf29 TXNRD2 SEPT5-GP1BB
nsv517478 Chr.22:19703979 - 19817740 on Build GRCh38 Loss TBX1 GP1BB GNB1L SEPT5 SEPT5-GP1BB
dgv725n67 Chr.22:19711970 - 19797426 on Build GRCh38 Gain TBX1 GP1BB GNB1L SEPT5 SEPT5-GP1BB
nsv828939 Chr.22:19696032 - 20324465 on Build GRCh38 Loss ARVCF RTN4R CCDC188 MIR3618 ZDHHC8 C22orf29 COMT TBX1 TANGO2 DGCR8 MIR6816 SEPT5 MIR185 DGCR6L MIR4761 TRMT2A RANBP1 SEPT5-GP1BB LINC00896 MIR1306 GP1BB GNB1L TXNRD2 LOC440792 LOC284865 MIR1286
nsv953023 Chr.22:19716878 - 19770977 on Build GRCh38 Deletion TBX1 GP1BB SEPT5 SEPT5-GP1BB
nsv834128 Chr.22:19634627 - 19803975 on Build GRCh38 Loss TBX1 GP1BB GNB1L SEPT5 SEPT5-GP1BB
esv2751940 Chr.22:19435727 - 19779259 on Build GRCh38 Gain TBX1 LINC00895 CLDN5 GP1BB SEPT5 C22orf39 CDC45 MRPL40 UFD1L SEPT5-GP1BB
esv3575418 Chr.22:18161776 - 19963846 on Build GRCh38 Gain GGT3P C22orf29 LOC100996415 RIMBP3 MRPL40 UFD1L COMT TBX1 DGCR5 USP18 DGCR11 CLDN5 SEPT5 TSSK2 LOC100996432 LINC01311 LOC729461 FAM230A CLTCL1 MIR4761 DGCR6 HIRA DGCR10 DGCR2 LINC00895 TMEM191B LOC102725072 DGCR14 SEPT5-GP1BB GP1BB GNB1L C22orf39 LOC100996401 TXNRD2 CDC45 GSC2 DGCR9 PI4KAP1 LOC642643 SLC25A1 PRODH

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