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See other CFHR3 CNV Assays ›
Gene Symbol
CFHR3
Assay Reference Genome
Location

Chr.1:196775809 on build GRCh38
Cytoband
1q31.3
Assay ID Hs04211013_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 10878

Gene Name:

 complement factor H related 3

Gene Aliases:

 CFHL3, DOWN16, FHR-3, FHR3, HLF4

Location:

 Chr.1:196774800-196794073 on Build GRCh38

Assay Gene Location:

 Within Intron 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
CFHR3 NM_001166624.1 NP_001160096.1
NM_021023.5 NP_066303.2
AK298459.1
BC020687.1 AAH20687.1
BC058009.1 AAH58009.1
BC070259.1 AAH70259.1
BG618529.1
X68679.1 CAA48639.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
dgv736n54 Chr.1:196743127 - 196818812 on Build GRCh38 Loss CFH CFHR3
esv3891026 Chr.1:196743466 - 196851286 on Build GRCh38 Gain+Loss CFH CFHR3 CFHR1
nsv471614 Chr.1:196700381 - 196986100 on Build GRCh38 Gain+Loss CFHR4 CFH CFHR2 CFHR3 CFHR1 CFHR5
dgv530n100 Chr.1:196769640 - 196801995 on Build GRCh38 Loss CFHR3
nsv1159841 Chr.1:196758720 - 196840786 on Build GRCh38 Deletion CFHR3 CFHR1
esv1001500 Chr.1:196742223 - 196860102 on Build GRCh38 Deletion CFH CFHR3 CFHR1
nsv436214 Chr.1:196747584 - 196830482 on Build GRCh38 Deletion CFHR3 CFHR1
nsv437262 Chr.1:196766496 - 196792987 on Build GRCh38 Loss CFHR3
nsv1008827 Chr.1:196772225 - 196870033 on Build GRCh38 Loss CFHR3 CFHR1
esv3544666 Chr.1:196752738 - 196852870 on Build GRCh38 Deletion CFHR3 CFHR1
esv3584613 Chr.1:196740630 - 196832942 on Build GRCh38 Loss CFH CFHR3 CFHR1
dgv503n100 Chr.1:196710325 - 196847588 on Build GRCh38 Gain CFH CFHR3 CFHR1
dgv504n100 Chr.1:196729100 - 196884377 on Build GRCh38 Gain CFH CFHR3 CFHR1
dgv13e55 Chr.1:196764003 - 196932623 on Build GRCh38 Gain CFHR4 CFHR3 CFHR1
dgv12e55 Chr.1:196762018 - 197042447 on Build GRCh38 Gain CFHR4 F13B CFHR2 CFHR3 CFHR1 CFHR5
dgv508n100 Chr.1:196740618 - 196843388 on Build GRCh38 Loss CFH CFHR3 CFHR1
esv2421560 Chr.1:196753917 - 196846661 on Build GRCh38 Deletion CFHR3 CFHR1
nsv1068779 Chr.1:196754369 - 196844570 on Build GRCh38 Deletion CFHR3 CFHR1
esv2721017 Chr.1:196766913 - 196776275 on Build GRCh38 Deletion CFHR3
esv2652513 Chr.1:196760586 - 196854711 on Build GRCh38 Loss CFHR3 CFHR1
nsv469810 Chr.1:196700380 - 196847241 on Build GRCh38 Loss CFH CFHR3 CFHR1
nsv528460 Chr.1:196573437 - 197477572 on Build GRCh38 Gain KCNT2 CFHR4 F13B CRB1 CFH MIR4735 ZBTB41 CFHR2 CFHR3 CFHR1 ASPM CFHR5
esv3588469 Chr.1:196759747 - 196839735 on Build GRCh38 Loss CFHR3 CFHR1
esv33169 Chr.1:196769796 - 196853803 on Build GRCh38 Gain+Loss CFHR3 CFHR1
dgv42e201 Chr.1:196743570 - 196889169 on Build GRCh38 Deletion CFHR4 CFH CFHR3 CFHR1
dgv506n100 Chr.1:196737547 - 196801995 on Build GRCh38 Gain CFH CFHR3
dgv505n100 Chr.1:196735867 - 196832930 on Build GRCh38 Gain CFH CFHR3 CFHR1
dgv524n100 Chr.1:196769481 - 196832930 on Build GRCh38 Gain+Loss CFHR3 CFHR1
nsv1126225 Chr.1:196748370 - 196799370 on Build GRCh38 Deletion CFHR3
nsv498700 Chr.1:196753075 - 196839376 on Build GRCh38 Loss CFHR3 CFHR1
nsv3999 Chr.1:196748345 - 196951930 on Build GRCh38 Deletion CFHR4 CFHR2 CFHR3 CFHR1
esv26552 Chr.1:196741188 - 196950140 on Build GRCh38 Gain+Loss CFHR4 CFH CFHR2 CFHR3 CFHR1
nsv514031 Chr.1:196769767 - 196832567 on Build GRCh38 Loss CFHR3 CFHR1
esv3891004 Chr.1:196748507 - 196932623 on Build GRCh38 Gain+Loss CFHR4 CFHR3 CFHR1
dgv133e212 Chr.1:196747283 - 196907907 on Build GRCh38 Loss CFHR4 CFH CFHR3 CFHR1
nsv517662 Chr.1:196741937 - 196968406 on Build GRCh38 Gain+Loss CFHR4 CFH CFHR2 CFHR3 CFHR1
dgv740n54 Chr.1:196774797 - 196853900 on Build GRCh38 Loss CFHR3 CFHR1
nsv826008 Chr.1:196739341 - 196859658 on Build GRCh38 Loss CFH CFHR3 CFHR1
esv3544678 Chr.1:196766911 - 196776486 on Build GRCh38 Deletion CFHR3
esv3588472 Chr.1:196766765 - 196795810 on Build GRCh38 Gain CFHR3
esv2630480 Chr.1:196757071 - 196842783 on Build GRCh38 Deletion CFHR3 CFHR1
nsv428290 Chr.1:196621707 - 196992672 on Build GRCh38 Gain+Loss CFHR4 CFH CFHR2 CFHR3 CFHR1 CFHR5
nsv442555 Chr.1:196761905 - 196832942 on Build GRCh38 Loss CFHR3 CFHR1
nsv1009172 Chr.1:196770830 - 196792960 on Build GRCh38 Gain CFHR3
nsv8691 Chr.1:196741634 - 196958768 on Build GRCh38 Gain+Loss CFHR4 CFH CFHR2 CFHR3 CFHR1
dgv512n100 Chr.1:196745680 - 196792924 on Build GRCh38 Loss CFH CFHR3
nsv482141 Chr.1:196774800 - 196793742 on Build GRCh38 Gain CFHR3
nsv548767 Chr.1:196752878 - 196798857 on Build GRCh38 Loss CFHR3
dgv507n100 Chr.1:196740093 - 196819940 on Build GRCh38 Loss CFH CFHR3 CFHR1
nsv819563 Chr.1:196747365 - 196843172 on Build GRCh38 Gain CFH CFHR3 CFHR1
nsv946555 Chr.1:196742876 - 196779662 on Build GRCh38 Duplication CFH CFHR3
esv3019345 Chr.1:196764870 - 196800870 on Build GRCh38 Deletion CFHR3
dgv87e199 Chr.1:196753215 - 196853562 on Build GRCh38 Deletion CFHR3 CFHR1
nsv820836 Chr.1:196747947 - 196852688 on Build GRCh38 Deletion CFHR3 CFHR1
nsv548785 Chr.1:196775758 - 196787170 on Build GRCh38 Loss CFHR3
dgv734n54 Chr.1:196742052 - 196853900 on Build GRCh38 Loss CFH CFHR3 CFHR1

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More Information


Additional Information:

For this assay, SNP(s) [rs73073574] 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

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