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: | Overlaps Intron 5 - Exon 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 | UCN2 SNORA94 MIR6823 UQCRC1 PFKFB4 COL7A1 MIR711 |
nsv1004383 | Chr.3:48506361 - 48612339 on Build GRCh38 | Loss | UCN2 SNORA94 MIR6823 UQCRC1 PFKFB4 COL7A1 MIR711 |
nsv3811 | Chr.3:48561747 - 48606376 on Build GRCh38 | Deletion | UCN2 SNORA94 UQCRC1 PFKFB4 COL7A1 MIR711 |
nsv834685 | Chr.3:48527576 - 48708341 on Build GRCh38 | Loss | CELSR3 CELSR3-AS1 MIR6823 TMEM89 COL7A1 MIR4793 MIR711 UCN2 MIR6824 SNORA94 IP6K2 NCKIPSD SLC26A6 UQCRC1 PFKFB4 |
nsv523981 | Chr.3:48478880 - 48683607 on Build GRCh38 | Loss | CELSR3 CELSR3-AS1 MIR6823 TMEM89 COL7A1 MIR4793 SHISA5 MIR711 UCN2 MIR6824 SNORA94 NCKIPSD SLC26A6 UQCRC1 PFKFB4 |
nsv818138 | Chr.3:48573492 - 48694054 on Build GRCh38 | Gain | CELSR3 MIR6824 SNORA94 IP6K2 NCKIPSD SLC26A6 CELSR3-AS1 TMEM89 UQCRC1 COL7A1 MIR4793 MIR711 |
nsv590246 | Chr.3:48590581 - 48683607 on Build GRCh38 | Loss | CELSR3 MIR6824 SNORA94 NCKIPSD SLC26A6 CELSR3-AS1 TMEM89 UQCRC1 COL7A1 MIR4793 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |