Assay Details
Target Gene Details
Entrez Gene ID: | 1378 |
Gene Name: | complement component 3b/4b receptor 1 (Knops blood group) |
Gene Aliases: |
C3BR, C4BR, CD35, KN |
Location: |
Chr.1:207496128-207641765 on Build GRCh38 |
Assay Gene Location: | Within Exon 34 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CR1 | NM_000573.3 | 26 | 4442 | NP_000564.2 |
NM_000651.4 | 34 | 5792 | NP_000642.3 | |
XM_006711166.2 | 34 | 5768 | XP_006711229.1 | |
XM_011509205.1 | 34 | 5768 | XP_011507507.1 | |
X05309.1 | 17 | 2798 | CAA28933.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3891082 | Chr.1:207523372 - 207779899 on Build GRCh38 | Loss | CD46 CR1L CR1 |
esv2675458 | Chr.1:207540634 - 207708875 on Build GRCh38 | Deletion | CR1L CR1 |
nsv508690 | Chr.1:207504396 - 207597089 on Build GRCh38 | Deletion | CR1 |
nsv4232 | Chr.1:207516277 - 207587787 on Build GRCh38 | Deletion | CR1 |
esv2722106 | Chr.1:207502410 - 207681369 on Build GRCh38 | Deletion | CR1L CR1 |
esv2758993 | Chr.1:207384550 - 207751722 on Build GRCh38 | Gain+Loss | CR2 CR1L CR1 |
esv3545666 | Chr.1:207509399 - 207692876 on Build GRCh38 | Deletion | CR1L CR1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |