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 Exon 15 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CFI | NM_000204.4 | 13 | 1882 | NP_000195.2 |
NM_001318057.1 | 14 | 1906 | NP_001304986.1 | |
XM_005262976.1 | 12 | 1861 | XP_005263033.1 | |
XM_006714209.1 | 14 | 1903 | XP_006714272.1 | |
XM_011531920.1 | XP_011530222.1 | |||
XM_017008164.1 | XP_016863653.1 | |||
XM_017008165.1 | XP_016863654.1 | |||
XM_017008166.1 | XP_016863655.1 | |||
AK122686.1 | 10 | 2049 | ||
AK290625.1 | 13 | 1655 | ||
AK299232.1 | 14 | 1732 | ||
BC020718.1 | AAH20718.1 | |||
BM955734.1 | 1 | 90 | ||
J02770.1 | 13 | 1642 | AAA52455.1 | |
KU159429.1 | 13 | 1859 | ||
N63668.1 | 1 | 322 | ||
Y00318.1 | 13 | 1657 | CAA68417.1 |
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 | CFI PLA2G12A |
esv3569652 | Chr.4:109727450 - 109747513 on Build GRCh38 | Loss | CFI PLA2G12A |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |