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See other RPH3AL CNV Assays ›
Gene Symbol
RPH3AL
Assay Reference Genome
Location

Chr.17:296593 on build GRCh38
Cytoband
17p13.3
Assay ID Hs07535250_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 9501

Gene Name:

 rabphilin 3A-like (without C2 domains)

Gene Aliases:

 NOC2

Location:

 Chr.17:212389-386254 on Build GRCh38

Assay Gene Location:

 Within Intron 8
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
RPH3AL NM_001190411.1 NP_001177340.1
NM_001190412.1 NP_001177341.1
NM_001190413.1 NP_001177342.1
NM_006987.3 NP_008918.1
XM_011535364.2 XP_011533666.1
XM_011535365.2 XP_011533667.1
XM_011535366.2 XP_011533668.1
XM_011535367.2 XP_011533669.1
XM_011535368.2 XP_011533670.1
XM_011535369.2 XP_011533671.1
XM_017025367.1 XP_016880856.1
XM_017025368.1 XP_016880857.1
XM_017025369.1 XP_016880858.1
XM_017025370.1 XP_016880859.1
XM_017025371.1 XP_016880860.1
AF129812.1 AAD45582.1
AK000469.1 BAA91186.1
AK291950.1
BC005153.1 AAH05153.1
BC093776.1 AAH93776.1
BC113413.1
BU197069.1
DA378956.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv1064439 Chr.17:275103 - 336127 on Build GRCh38 Gain RPH3AL LOC100506388
esv2715239 Chr.17:296312 - 296576 on Build GRCh38 Deletion RPH3AL
nsv1057837 Chr.17:263243 - 314233 on Build GRCh38 Loss RPH3AL
nsv952089 Chr.17:280110 - 314509 on Build GRCh38 Deletion RPH3AL
esv3639615 Chr.17:177867 - 302096 on Build GRCh38 Gain LOC100506371 DOC2B RPH3AL
dgv3071n100 Chr.17:150721 - 853554 on Build GRCh38 Gain LOC100506371 GLOD4 DBIL5P FAM57A VPS53 DOC2B NXN MRM3 LOC105371430 GEMIN4 C17orf97 FAM101B RPH3AL LOC100506388
esv23927 Chr.17:294082 - 296868 on Build GRCh38 Loss RPH3AL
nsv509642 Chr.17:191012 - 394464 on Build GRCh38 Insertion RPH3AL LOC100506388
esv2715237 Chr.17:295759 - 296559 on Build GRCh38 Deletion RPH3AL
esv2422420 Chr.17:210752 - 1113141 on Build GRCh38 Duplication GLOD4 DBIL5P FAM57A VPS53 LOC100130876 NXN MRM3 TIMM22 ABR LOC105371430 GEMIN4 C17orf97 FAM101B LOC101927727 RPH3AL LOC100506388 MIR3183
nsv457627 Chr.17:201297 - 733582 on Build GRCh38 Gain LOC105371430 C17orf97 FAM57A FAM101B VPS53 RPH3AL LOC100506388
nsv457628 Chr.17:285519 - 368354 on Build GRCh38 Loss RPH3AL LOC100506388

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More Information


Additional Information:

For this assay, SNP(s) [rs79888645,rs80200671] 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 Intronic Non-exonic DGV Variation

Gene Ontology Categories:

Function(s) Process(es)


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