Assay Details
Target Gene Details
Entrez Gene ID: | 3426 |
Gene Name: | complement factor I |
Gene Aliases: |
AHUS3, ARMD13, C3BINA, C3b-INA, FI, IF, KAF |
Location: |
Chr.4:109731221-109802225 on Build GRCh38 |
Assay Gene Location: | Within Intron 15 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CFI | XM_011531920.1 | XP_011530222.1 | ||
XM_017008164.1 | XP_016863653.1 | |||
XM_017008165.1 | XP_016863654.1 | |||
XM_017008166.1 | XP_016863655.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv4463 | Chr.4:109726575 - 109771969 on Build GRCh38 | Deletion | PLA2G12A CFI |
esv3569652 | Chr.4:109727450 - 109747513 on Build GRCh38 | Loss | PLA2G12A CFI |
nsv595142 | Chr.4:109688325 - 109735574 on Build GRCh38 | Loss | PLA2G12A MCUB CASP6 CFI |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |