Assay Details
Target Gene Details
Entrez Gene ID: | 90411 |
Gene Name: | multiple coagulation factor deficiency 2 |
Gene Aliases: |
F5F8D, F5F8D2, LMAN1IP, SDNSF |
Location: |
Chr.2:46901870-46941855 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| MCFD2 | NM_001171508.2 | NP_001164979.1 | ||
| NM_001171511.2 | NP_001164982.1 | |||
| AK292127.1 | ||||
| AK293889.1 | ||||
| DC321899.1 | ||||
| DC332658.1 |
Target Gene Details
Entrez Gene ID: | 57217 |
Gene Name: | tetratricopeptide repeat domain 7A |
Gene Aliases: |
GIDID, MINAT, TTC7 |
Location: |
Chr.2:46915931-47076136 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| TTC7A | NM_001288953.1 | NP_001275882.1 | ||
| XM_005264439.3 | XP_005264496.1 | |||
| XM_011532998.2 | XP_011531300.1 | |||
| XM_017004527.1 | XP_016860016.1 | |||
| XM_017004528.1 | XP_016860017.1 | |||
| AK056464.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv524970 | Chr.2:46935600 - 47074956 on Build GRCh38 | Loss |
|
| nsv1004828 | Chr.2:46829710 - 47587343 on Build GRCh38 | Gain |
|
| nsv581749 | Chr.2:46777649 - 47098834 on Build GRCh38 | Loss |
|
More Information
Set Membership: |
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Genomic Map