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

Chr.22:19724686 on build GRCh38
Cytoband
22q11.21
Assay ID Hs07512748_cn
Size
Availability Made To Order
Catalog # 4400291
Price 475.00
Your Price
Online offer: 441.65
441.65
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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 2 870 NP_000398.1
J03259.1 2 865 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 4583
NR_037612.1 12 3087
L20860.1 1 2092 AAA20398.1
U59632.1 12 3086 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 LOC284865 TXNRD2 MIR1286 TANGO2 LINC00895 UFD1L TBX1 CCDC188 CLDN5 LINC00896 GP1BB DGCR8 MIR3618 MIR185 RANBP1 SEPT5-GP1BB SEPT5 COMT MIR1306 DGCR6L TRMT2A RTN4R GNB1L CDC45 LOC440792 MIR6816 ZDHHC8 MIR4761 LOC101927859 ARVCF C22orf29
nsv828938 Chr.22:19691069 - 20324465 on Build GRCh38 Gain LOC284865 TXNRD2 MIR1286 TANGO2 TBX1 CCDC188 LINC00896 GP1BB DGCR8 MIR3618 MIR185 RANBP1 SEPT5-GP1BB SEPT5 COMT MIR1306 DGCR6L TRMT2A RTN4R GNB1L LOC440792 MIR6816 ZDHHC8 MIR4761 ARVCF C22orf29
nsv828943 Chr.22:19720750 - 19797550 on Build GRCh38 Loss GP1BB SEPT5-GP1BB SEPT5 TBX1 GNB1L
esv3647279 Chr.22:19719848 - 19878980 on Build GRCh38 Gain GP1BB TXNRD2 SEPT5-GP1BB SEPT5 TBX1 C22orf29 GNB1L
esv22571 Chr.22:19723976 - 19728431 on Build GRCh38 Loss GP1BB SEPT5-GP1BB
nsv588216 Chr.22:19086099 - 19839117 on Build GRCh38 Gain TSSK2 GSC2 LINC00895 MRPL40 UFD1L TBX1 CLTCL1 GNB1L CDC45 CLDN5 HIRA GP1BB SLC25A1 DGCR2 SEPT5-GP1BB SEPT5 C22orf39 LINC01311 DGCR14
nsv834129 Chr.22:19705617 - 19919068 on Build GRCh38 Loss GP1BB TXNRD2 SEPT5-GP1BB SEPT5 TBX1 C22orf29 GNB1L
nsv517478 Chr.22:19703979 - 19817740 on Build GRCh38 Loss GP1BB SEPT5-GP1BB SEPT5 TBX1 GNB1L
dgv725n67 Chr.22:19711970 - 19797426 on Build GRCh38 Gain GP1BB SEPT5-GP1BB SEPT5 TBX1 GNB1L
nsv828939 Chr.22:19696032 - 20324465 on Build GRCh38 Loss LOC284865 TXNRD2 MIR1286 TANGO2 TBX1 CCDC188 LINC00896 GP1BB DGCR8 MIR3618 MIR185 RANBP1 SEPT5-GP1BB SEPT5 COMT MIR1306 DGCR6L TRMT2A RTN4R GNB1L LOC440792 MIR6816 ZDHHC8 MIR4761 ARVCF C22orf29
nsv953023 Chr.22:19716878 - 19770977 on Build GRCh38 Deletion GP1BB SEPT5-GP1BB SEPT5 TBX1
nsv834128 Chr.22:19634627 - 19803975 on Build GRCh38 Loss GP1BB SEPT5-GP1BB SEPT5 TBX1 GNB1L
esv2751940 Chr.22:19435727 - 19779259 on Build GRCh38 Gain CLDN5 GP1BB SEPT5-GP1BB SEPT5 C22orf39 LINC00895 MRPL40 UFD1L TBX1 CDC45
esv3575418 Chr.22:18161776 - 19963846 on Build GRCh38 Gain DGCR10 PRODH LOC102725072 TXNRD2 DGCR11 LINC00895 MRPL40 DGCR9 UFD1L TBX1 DGCR5 CLDN5 HIRA GP1BB DGCR2 PI4KAP1 SEPT5-GP1BB SEPT5 C22orf39 LINC01311 COMT LOC100996415 LOC100996401 USP18 TSSK2 FAM230A GSC2 TMEM191B LOC642643 CLTCL1 GGT3P RIMBP3 GNB1L CDC45 LOC729461 DGCR6 SLC25A1 MIR4761 LOC100996432 C22orf29 DGCR14

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