Assay Details
Target Gene Details
Entrez Gene ID: | 116228 |
Gene Name: | COX20, cytochrome c oxidase assembly factor |
Gene Aliases: |
FAM36A |
Location: |
Chr.1:244835306-244845063 on Build GRCh38 |
Assay Gene Location: | Within Exon 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
COX20 | NM_001312871.1 | 5 | 1605 | NP_001299800.1 |
NM_001312872.1 | 5 | 1613 | NP_001299801.1 | |
NM_001312873.1 | 3 | 1442 | NP_001299802.1 | |
NM_001312874.1 | 4 | 1573 | NP_001299803.1 | |
NM_198076.5 | 4 | 1724 | NP_932342.1 | |
NR_132419.1 | 3 | 1462 | ||
NR_132420.1 | 4 | 1557 | ||
NR_132421.1 | 3 | 1438 | ||
AK000866.1 | 4 | 1367 | ||
AK125259.1 | 4 | 1716 | ||
AK130498.1 | 4 | 1390 | ||
AK300760.1 | 3 | 1243 |
Target Gene Details
Entrez Gene ID: | 3192 |
Gene Name: | heterogeneous nuclear ribonucleoprotein U |
Gene Aliases: |
HNRNPU-AS1, HNRPU, SAF-A, SAFA, U21.1, hnRNP U |
Location: |
Chr.1:244842123-244864720 on Build GRCh38 |
Assay Gene Location: | Within Exon 15 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HNRNPU | XM_017001115.1 | 15 | 11925 | XP_016856604.1 |
XM_017001116.1 | 16 | 9649 | XP_016856605.1 | |
XM_017001117.1 | 15 | 11719 | XP_016856606.1 | |
AK095297.1 | 2 | 1260 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv549493 | Chr.1:244721983 - 244856983 on Build GRCh38 | Gain | HNRNPU COX20 SNORA100 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |