Assay Details
Target Gene Details
Entrez Gene ID: | 4719 |
Gene Name: | NADH:ubiquinone oxidoreductase core subunit S1 |
Gene Aliases: |
CI-75Kd, CI-75k, PRO1304 |
Location: |
Chr.2:206121971-206159519 on Build GRCh38 |
Assay Gene Location: | Within Exon 20 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NDUFS1 | NM_001199981.1 | 18 | 3163 | NP_001186910.1 |
NM_001199982.1 | 16 | 2994 | NP_001186911.1 | |
NM_001199983.1 | 18 | 3179 | NP_001186912.1 | |
NM_001199984.1 | 19 | 3191 | NP_001186913.1 | |
NM_005006.6 | 19 | 3271 | NP_004997.4 | |
XM_017004188.1 | 19 | 3230 | XP_016859677.1 | |
AA150435.1 | 1 | 203 | ||
BC030833.1 | 19 | 3175 | AAH30833.1 | |
CA419316.1 | 1 | 189 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3893538 | Chr.2:206115621 - 206147759 on Build GRCh38 | Loss | NDUFS1 GCSHP3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |