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

Chr.19:19192522 on build GRCh38
Cytoband
19p13.11
Assay ID Hs02646419_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 70 NP_001139255.1
NM_001145784.1 1 70 NP_001139256.1
DA440390.1 1 70

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 70 NP_005910.1
NR_027307.1 1 70
NR_027308.1 1 70

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:

 Within Exon 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
RFXANK NM_001278727.1 1 324 NP_001265656.1
NM_003721.3 1 324 NP_003712.1
NM_134440.2 1 324 NP_604389.1
XM_005260136.4 1 288 XP_005260193.1
AF094760.1 1 236 AAC69883.1
BC114558.1 1 280 AAI14559.1
BC114563.1 1 280 AAI14564.1
BM682278.1 1 346
CX871218.1 1 257

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 BORCS8-MEF2B NR2C2AP ARMC6 TMEM161A BORCS8 SLC25A42 RFXANK MEF2B
nsv1151217 Chr.19:18627369 - 19284914 on Build GRCh38 Deletion HOMER3 BORCS8-MEF2B NR2C2AP CRTC1 ARMC6 TMEM161A BORCS8 COMP DDX49 KLHL26 CERS1 MEF2B GDF1 LOC102724360 SUGP1 SLC25A42 RFXANK UPF1 COPE NCAN TM6SF2 HAPLN4 SUGP2

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More Information


Additional Information:

For this assay, SNP(s) [rs73922821] 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 DGV Variation

Panther Classification:

Gene Ontology Categories:

Function(s) Process(es)


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