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See other NDUFS1 CNV Assays ›
Gene Symbol
NDUFS1
Assay Reference Genome
Location

Chr.2:206124204 on build GRCh38
Cytoband
2q33.3
Assay ID Hs02081943_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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  • Genomic Map
  • Assay Details
  • More Information

Genomic Map

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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 2240 NP_001186910.1
NM_001199982.1 16 2071 NP_001186911.1
NM_001199983.1 18 2256 NP_001186912.1
NM_001199984.1 19 2268 NP_001186913.1
NM_005006.6 19 2348 NP_004997.4
XM_017004188.1 19 2307 XP_016859677.1
AK098395.1 14 1572
AK295705.1 18 2146
AK295966.1 15 1912
AK295987.1 19 2268
AK298320.1 16 1977
AK300585.1 18 2160
AW074155.1 1 496
BC012068.1 7 854 AAH12068.1
BC022368.1 19 2249 AAH22368.1
BC030833.1 19 2252 AAH30833.1
X61100.1 19 2211 CAA43412.1

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 GCSHP3 NDUFS1
esv3893539 Chr.2:206123849 - 206133326 on Build GRCh38 Loss NDUFS1
nsv821884 Chr.2:206123804 - 206124254 on Build GRCh38 Gain NDUFS1

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More Information


Set Membership:

Intragenic Exonic DGV Variation

Panther Classification:

Molecular Function -

reductase

Gene Ontology Categories:

Function(s) Process(es)

mitochondrial electron transport, NADH to ubiquinone
apoptotic mitochondrial changes
mitochondrial respiratory chain complex I assembly
cellular respiration
ATP metabolic process
regulation of mitochondrial membrane potential
reactive oxygen species metabolic process
protein binding
NADH dehydrogenase (ubiquinone) activity
electron carrier activity
metal ion binding
2 iron, 2 sulfur cluster binding
4 iron, 4 sulfur cluster binding

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