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See other BORCS8 CNV Assays ›
Gene Symbol
BORCS8
Assay Reference Genome
Location

Chr.19:19192160 on build GRCh38
Cytoband
19p13.11
Assay ID Hs02870426_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 729991

Gene Name:

 BLOC-1 related complex subunit 8

Gene Aliases:

 MEF2BNB

Location:

 Chr.19:19176904-19192591 on Build GRCh38

Assay Gene Location:

 Within Exon 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
BORCS8 NM_001145783.1 1 432 NP_001139255.1
NM_001145784.1 1 432 NP_001139256.1
BC004449.1 AAH04449.1
BC157837.1 1 263
BC157868.1 1 45
DA440390.1 1 432

Target Gene Details

Entrez Gene ID:

 4207

Gene Name:

 BORCS8-MEF2B readthrough

Gene Aliases:

 LOC729991-MEF2B, MEF2B, MEF2BNB-MEF2B

Location:

 Chr.19:19145567-19192591 on Build GRCh38

Assay Gene Location:

 Within Exon 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
BORCS8-MEF2B NM_005919.3 1 432 NP_005910.1
NR_027307.1 1 432
NR_027308.1 1 432
AK301086.1
AK316328.1

Target Gene Details

Entrez Gene ID:

 8625

Gene Name:

 regulatory factor X associated ankyrin containing protein

Gene Aliases:

 ANKRA1, BLS, F14150_1, RFX-B

Location:

 Chr.19:19192199-19201869 on Build GRCh38

Assay Gene Location:

 Overlaps - Exon 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
RFXANK NM_001278727.1 NP_001265656.1
NM_003721.3 NP_003712.1
NM_134440.2 NP_604389.1
BM682278.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv833779 Chr.19:19052683 - 19202282 on Build GRCh38 Loss TMEM161A SLC25A42 MEF2B ARMC6 RFXANK BORCS8-MEF2B NR2C2AP BORCS8
nsv1151217 Chr.19:18627369 - 19284914 on Build GRCh38 Deletion DDX49 SUGP1 MEF2B RFXANK COPE BORCS8-MEF2B NCAN KLHL26 HAPLN4 GDF1 LOC102724360 CERS1 TMEM161A SLC25A42 COMP ARMC6 TM6SF2 HOMER3 NR2C2AP CRTC1 UPF1 BORCS8 SUGP2

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More Information


Additional Information:

For this assay, SNP(s) [rs141324009] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Set Membership:

 Intragenic Exonic Non-exonic DGV Variation

Panther Classification:

Gene Ontology Categories:

Function(s) Process(es)


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