Assay Details
Target Gene Details
Entrez Gene ID: | 4723 |
Gene Name: | NADH:ubiquinone oxidoreductase core subunit V1 |
Gene Aliases: |
CI-51K, CI51KD, UQOR1 |
Location: |
Chr.11:67606852-67612541 on Build GRCh38 |
Assay Gene Location: | Within Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NDUFV1 | NM_001166102.1 | 6 | 915 | NP_001159574.1 |
NM_007103.3 | 6 | 942 | NP_009034.2 | |
AF053070.1 | 6 | 858 | AAC39722.1 | |
AF092131.1 | 6 | 868 | AAD40373.1 | |
AK055875.1 | ||||
AK223061.1 | 6 | 836 | BAD96781.1 | |
AK293522.1 | 5 | 753 | ||
AK300726.1 | 4 | 449 | ||
AK316122.1 | 6 | 783 | ||
BC007619.1 | 3 | 459 | AAH07619.1 | |
BC008146.1 | 6 | 827 | AAH08146.1 | |
BC015645.2 | 6 | 822 | AAH15645.1 | |
CR456739.1 | 6 | 789 | CAG33020.1 | |
S67973.1 | 4 | 531 | AAB29698.2 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv1981n54 | Chr.11:67579272 - 68049469 on Build GRCh38 | Gain | MIR7113 ALDH3B1 LOC105369360 GSTP1 MIR6753 NDUFV1 ALDH3B2 TCIRG1 TBX10 MIR4691 NUDT8 UNC93B1 NDUFS8 ACY3 DOC2GP C11orf72 FAM86C2P |
esv2422195 | Chr.11:67466851 - 67859430 on Build GRCh38 | Duplication | GSTP1 AIP MIR6752 NDUFV1 CABP2 ALDH3B2 TBX10 NUDT8 TMEM134 PITPNM1 ACY3 DOC2GP CDK2AP2 C11orf72 FAM86C2P |
dgv1982n54 | Chr.11:67605006 - 67666398 on Build GRCh38 | Loss | ALDH3B2 TBX10 NUDT8 ACY3 DOC2GP C11orf72 NDUFV1 |
dgv1214n100 | Chr.11:67552445 - 67996597 on Build GRCh38 | Gain | ALDH3B2 TBX10 LOC105369360 NUDT8 UNC93B1 GSTP1 ACY3 DOC2GP C11orf72 FAM86C2P NDUFV1 |
nsv951023 | Chr.11:67608030 - 67649929 on Build GRCh38 | Deletion | TBX10 NUDT8 ACY3 DOC2GP NDUFV1 |
nsv468606 | Chr.11:67585218 - 68049469 on Build GRCh38 | Gain | MIR7113 ALDH3B1 LOC105369360 GSTP1 MIR6753 NDUFV1 ALDH3B2 TCIRG1 TBX10 MIR4691 NUDT8 UNC93B1 NDUFS8 ACY3 DOC2GP C11orf72 FAM86C2P |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |