Assay Details
Target Gene Details
Entrez Gene ID: | 7384 |
Gene Name: | ubiquinol-cytochrome c reductase core protein I |
Gene Aliases: |
D3S3191, QCR1, UQCR1 |
Location: |
Chr.3:48598999-48609665 on Build GRCh38 |
Assay Gene Location: | Within Intron 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
UQCRC1 | NM_003365.2 | NP_003356.2 | ||
AK129903.1 | ||||
AK300694.1 | ||||
AK313090.1 | ||||
BC009586.1 | AAH09586.1 | |||
D26485.1 | BAA05495.1 | |||
L16842.1 | AAA20046.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv954484 | Chr.3:48533268 - 48609567 on Build GRCh38 | Deletion | COL7A1 SNORA94 MIR6823 MIR711 PFKFB4 UCN2 UQCRC1 |
nsv1004383 | Chr.3:48506361 - 48612339 on Build GRCh38 | Loss | COL7A1 SNORA94 MIR6823 MIR711 PFKFB4 UCN2 UQCRC1 |
nsv3811 | Chr.3:48561747 - 48606376 on Build GRCh38 | Deletion | COL7A1 SNORA94 MIR711 PFKFB4 UCN2 UQCRC1 |
nsv834685 | Chr.3:48527576 - 48708341 on Build GRCh38 | Loss | NCKIPSD CELSR3-AS1 COL7A1 SNORA94 MIR6823 PFKFB4 TMEM89 MIR711 SLC26A6 IP6K2 UCN2 MIR6824 CELSR3 MIR4793 UQCRC1 |
nsv523981 | Chr.3:48478880 - 48683607 on Build GRCh38 | Loss | NCKIPSD CELSR3-AS1 COL7A1 SNORA94 MIR6823 PFKFB4 SHISA5 TMEM89 MIR711 SLC26A6 UCN2 MIR6824 CELSR3 MIR4793 UQCRC1 |
nsv818138 | Chr.3:48573492 - 48694054 on Build GRCh38 | Gain | NCKIPSD CELSR3-AS1 TMEM89 COL7A1 SNORA94 MIR711 SLC26A6 IP6K2 MIR6824 CELSR3 MIR4793 UQCRC1 |
nsv590246 | Chr.3:48590581 - 48683607 on Build GRCh38 | Loss | NCKIPSD CELSR3-AS1 TMEM89 COL7A1 SNORA94 SLC26A6 MIR6824 CELSR3 MIR4793 UQCRC1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |