Assay Details
Target Gene Details
Entrez Gene ID: | 4718 |
Gene Name: | NADH:ubiquinone oxidoreductase subunit C2 |
Gene Aliases: |
B14.5b, CI-B14.5b, HLC-1, NADHDH2 |
Location: |
Chr.11:78068347-78080219 on Build GRCh38 |
Assay Gene Location: | Within Exon 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NDUFC2 | NM_001204054.1 | NP_001190983.1 | ||
NM_001204055.1 | 3 | 807 | NP_001190984.1 | |
NM_004549.5 | 3 | 876 | NP_004540.1 | |
AF070652.1 | 3 | 520 | AAD20958.1 | |
AF087659.1 | 3 | 465 | AAD09754.1 | |
AF087899.1 | 3 | 877 | AAP97198.1 | |
AF369951.1 | 3 | 483 | AAM21294.1 | |
AF369952.1 | 3 | 517 | AAM21295.1 | |
AK022785.1 | 3 | 451 | ||
AK023013.1 | 3 | 517 | ||
AK098173.1 | ||||
AL050278.1 | 3 | 506 | CAB43379.1 | |
BC007323.2 | 3 | 542 | AAH07323.1 | |
BE740715.1 | 3 | 407 | ||
CR533448.1 | CAG38479.1 |
Target Gene Details
Entrez Gene ID: | 100532726 |
Gene Name: | NDUFC2-KCTD14 readthrough |
Gene Aliases: |
- |
Location: |
Chr.11:78015715-78080219 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NDUFC2-KCTD14 | NM_001203260.1 | NP_001190189.1 | ||
NM_001203261.1 | NP_001190190.1 | |||
NM_001203262.1 | NP_001190191.1 | |||
BG723290.1 | ||||
FY211285.1 | ||||
FY212410.1 | ||||
FY212967.1 | ||||
FY213449.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv520740 | Chr.11:77842592 - 78286890 on Build GRCh38 | Gain | NDUFC2 NDUFC2-KCTD14 ALG8 USP35 RSF1 GAB2 KCTD21 KCTD21-AS1 KCTD14 INTS4 AAMDC THRSP |
nsv1050891 | Chr.11:77705600 - 78076956 on Build GRCh38 | Gain | NDUFC2 NDUFC2-KCTD14 RSF1 KCTD14 RPS20P27 INTS4 AAMDC THRSP |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |