Assay Details
Target Gene Details
Entrez Gene ID: | 6648 |
Gene Name: | superoxide dismutase 2, mitochondrial |
Gene Aliases: |
IPO-B, IPOB, MNSOD, MVCD6, Mn-SOD |
Location: |
Chr.6:159679064-159762529 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SOD2 | NM_001322817.1 | NP_001309746.1 | ||
AK097395.1 |
Target Gene Details
Entrez Gene ID: | 9589 |
Gene Name: | Wilms tumor 1 associated protein |
Gene Aliases: |
Mum2 |
Location: |
Chr.6:159726680-159756319 on Build GRCh38 |
Assay Gene Location: | Within Intron 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
WTAP | NM_001270531.1 | NP_001257460.1 | ||
NM_001270532.1 | NP_001257461.1 | |||
NM_001270533.1 | NP_001257462.1 | |||
NM_004906.4 | NP_004897.2 | |||
NM_152857.2 | NP_690596.1 | |||
NM_152858.2 | NP_690597.1 | |||
XM_017011514.1 | XP_016867003.1 | |||
XM_017011516.1 | XP_016867005.1 | |||
AF374416.1 | AAK54764.1 | |||
AJ276706.1 | CAC10188.1 | |||
AK127822.1 | ||||
AK290854.1 | ||||
BC000383.2 | AAH00383.1 | |||
BC004432.1 | AAH04432.1 | |||
BC069192.1 | AAH69192.1 | |||
BE906617.1 | ||||
BG702882.1 | ||||
BQ948913.1 | ||||
BX387163.2 | ||||
CN284477.1 | ||||
D14661.1 | BAA03495.1 | |||
DA138013.1 | ||||
DA561768.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv949879 | Chr.6:159733269 - 159742868 on Build GRCh38 | Duplication | SOD2 WTAP |
esv2759483 | Chr.6:159582799 - 159794119 on Build GRCh38 | Gain | TCP1 SOD2 SNORA29 LOC401281 SNORA20 MRPL18 ACAT2 LOC100129518 WTAP |
More Information
Additional Information:
For this assay, SNP(s) [rs114427194] 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 |