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 Intron 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NDUFV1 | NM_001166102.1 | NP_001159574.1 | ||
NM_007103.3 | NP_009034.2 | |||
AF053070.1 | AAC39722.1 | |||
AF092131.1 | AAD40373.1 | |||
AK055875.1 | ||||
AK223061.1 | BAD96781.1 | |||
AK293522.1 | ||||
AK300726.1 | ||||
AK316122.1 | ||||
BC007619.1 | AAH07619.1 | |||
BC008146.1 | AAH08146.1 | |||
BC015645.2 | AAH15645.1 | |||
CR456739.1 | CAG33020.1 | |||
DB532599.1 | ||||
S67973.1 | 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 | LOC105369360 DOC2GP TCIRG1 UNC93B1 NUDT8 ALDH3B2 C11orf72 NDUFS8 GSTP1 MIR7113 ALDH3B1 MIR6753 NDUFV1 MIR4691 FAM86C2P TBX10 ACY3 |
esv2422195 | Chr.11:67466851 - 67859430 on Build GRCh38 | Duplication | DOC2GP NUDT8 ALDH3B2 C11orf72 GSTP1 TMEM134 MIR6752 CABP2 AIP NDUFV1 FAM86C2P TBX10 PITPNM1 ACY3 CDK2AP2 |
dgv1982n54 | Chr.11:67605006 - 67666398 on Build GRCh38 | Loss | NDUFV1 DOC2GP TBX10 NUDT8 ALDH3B2 C11orf72 ACY3 |
dgv1214n100 | Chr.11:67552445 - 67996597 on Build GRCh38 | Gain | LOC105369360 NDUFV1 DOC2GP FAM86C2P UNC93B1 TBX10 NUDT8 ALDH3B2 C11orf72 GSTP1 ACY3 |
nsv951023 | Chr.11:67608030 - 67649929 on Build GRCh38 | Deletion | NDUFV1 DOC2GP TBX10 NUDT8 ACY3 |
nsv468606 | Chr.11:67585218 - 68049469 on Build GRCh38 | Gain | LOC105369360 DOC2GP TCIRG1 UNC93B1 NUDT8 ALDH3B2 C11orf72 NDUFS8 GSTP1 MIR7113 ALDH3B1 MIR6753 NDUFV1 MIR4691 FAM86C2P TBX10 ACY3 |
More Information
Additional Information:
For this assay, SNP(s) [rs112015076] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |