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See other CFAP46 CNV Assays ›
Gene Symbol
CFAP46
Assay Reference Genome
Location

Chr.10:132817042 on build GRCh38
Cytoband
10q26.3
Assay ID Hs03759997_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 54777

Gene Name:

 cilia and flagella associated protein 46

Gene Aliases:

 C10orf123, C10orf124, C10orf92, C10orf93, TTC40, bA288G11.4, bA288G11.5, bB137A17.2, bB137A17.3

Location:

 Chr.10:132808392-132942585 on Build GRCh38

Assay Gene Location:

 Within Intron 50
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
CFAP46 NM_001200049.2 NP_001186978.2
AL122111.1 CAB59272.3
BC034223.1 AAH34223.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv2750852 Chr.10:132797506 - 132852920 on Build GRCh38 Gain CFAP46
nsv1042708 Chr.10:132791887 - 132988338 on Build GRCh38 Gain LINC01167 LINC01166 LINC01168 CFAP46
esv3577894 Chr.10:132744696 - 132825790 on Build GRCh38 Gain INPP5A NKX6-2 CFAP46
nsv832033 Chr.10:132743736 - 132870955 on Build GRCh38 Loss INPP5A NKX6-2 CFAP46
nsv1054934 Chr.10:130334322 - 133158679 on Build GRCh38 Gain ADGRA1-AS1 STK32C JAKMIP3 LOC107984282 C10orf91 BNIP3 LINC01164 TCERG1L-AS1 ADGRA1 TCERG1L PWWP2B LOC105378568 LRRC27 CFAP46 PPP2R2D INPP5A LINC01167 LINC01166 NKX6-2 MIR378C LINC01168 DPYSL4
nsv522491 Chr.10:132814378 - 132819849 on Build GRCh38 Loss CFAP46
nsv832034 Chr.10:132761541 - 132940326 on Build GRCh38 Loss INPP5A NKX6-2 CFAP46
nsv509378 Chr.10:132737773 - 132833305 on Build GRCh38 Insertion INPP5A NKX6-2 CFAP46
nsv552526 Chr.10:132699017 - 133103793 on Build GRCh38 Gain ADGRA1-AS1 INPP5A LINC01167 LINC01166 NKX6-2 ADGRA1 LINC01168 CFAP46
nsv832032 Chr.10:132648722 - 132851966 on Build GRCh38 Loss INPP5A NKX6-2 CFAP46
nsv952700 Chr.10:132702797 - 132851596 on Build GRCh38 Deletion INPP5A NKX6-2 CFAP46

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More Information


Additional Information:

For this assay, SNP(s) [rs116659569] 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)


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