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

Chr.22:19723832 on build GRCh38
Cytoband
22q11.21
Assay ID Hs07512768_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:

 Overlaps Intron 1 - Exon 2
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:

 Overlaps Intron 11 - Exon 12
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 1238 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 LINC00895 RANBP1 TXNRD2 SEPT5 CDC45 MIR6816 C22orf29 TBX1 DGCR6L MIR1286 UFD1L CCDC188 ARVCF RTN4R CLDN5 MIR4761 LINC00896 COMT MIR185 GP1BB MIR1306 LOC440792 MIR3618 LOC101927859 DGCR8 ZDHHC8 TRMT2A SEPT5-GP1BB TANGO2 LOC284865 GNB1L
nsv828938 Chr.22:19691069 - 20324465 on Build GRCh38 Gain RANBP1 TXNRD2 SEPT5 MIR6816 C22orf29 TBX1 DGCR6L MIR1286 CCDC188 ARVCF RTN4R MIR4761 LINC00896 COMT MIR185 GP1BB MIR1306 LOC440792 MIR3618 DGCR8 ZDHHC8 TRMT2A SEPT5-GP1BB TANGO2 LOC284865 GNB1L
nsv828943 Chr.22:19720750 - 19797550 on Build GRCh38 Loss GP1BB SEPT5 SEPT5-GP1BB TBX1 GNB1L
esv3647279 Chr.22:19719848 - 19878980 on Build GRCh38 Gain TXNRD2 GP1BB SEPT5 SEPT5-GP1BB C22orf29 TBX1 GNB1L
nsv588216 Chr.22:19086099 - 19839117 on Build GRCh38 Gain LINC00895 MRPL40 GP1BB HIRA DGCR2 SEPT5 CDC45 CLTCL1 TBX1 SLC25A1 C22orf39 GSC2 TSSK2 UFD1L LINC01311 CLDN5 SEPT5-GP1BB GNB1L DGCR14
nsv834129 Chr.22:19705617 - 19919068 on Build GRCh38 Loss TXNRD2 GP1BB SEPT5 SEPT5-GP1BB C22orf29 TBX1 GNB1L
nsv517478 Chr.22:19703979 - 19817740 on Build GRCh38 Loss GP1BB SEPT5 SEPT5-GP1BB TBX1 GNB1L
dgv725n67 Chr.22:19711970 - 19797426 on Build GRCh38 Gain GP1BB SEPT5 SEPT5-GP1BB TBX1 GNB1L
nsv828939 Chr.22:19696032 - 20324465 on Build GRCh38 Loss RANBP1 TXNRD2 SEPT5 MIR6816 C22orf29 TBX1 DGCR6L MIR1286 CCDC188 ARVCF RTN4R MIR4761 LINC00896 COMT MIR185 GP1BB MIR1306 LOC440792 MIR3618 DGCR8 ZDHHC8 TRMT2A SEPT5-GP1BB TANGO2 LOC284865 GNB1L
nsv953023 Chr.22:19716878 - 19770977 on Build GRCh38 Deletion GP1BB SEPT5 SEPT5-GP1BB TBX1
nsv834128 Chr.22:19634627 - 19803975 on Build GRCh38 Loss GP1BB SEPT5 SEPT5-GP1BB TBX1 GNB1L
esv2751940 Chr.22:19435727 - 19779259 on Build GRCh38 Gain LINC00895 MRPL40 GP1BB SEPT5 CDC45 CLDN5 SEPT5-GP1BB TBX1 C22orf39 UFD1L
esv3575418 Chr.22:18161776 - 19963846 on Build GRCh38 Gain LINC00895 MRPL40 LOC642643 TXNRD2 DGCR2 SEPT5 CDC45 DGCR6 LOC100996401 LOC729461 TMEM191B C22orf29 TBX1 SLC25A1 GSC2 UFD1L LINC01311 USP18 PI4KAP1 DGCR9 RIMBP3 CLDN5 DGCR11 MIR4761 COMT DGCR10 GP1BB HIRA LOC102725072 LOC100996432 CLTCL1 C22orf39 TSSK2 FAM230A DGCR5 GGT3P LOC100996415 SEPT5-GP1BB PRODH GNB1L DGCR14

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