Assay Details
Target Gene Details
Entrez Gene ID: | 4913 |
Gene Name: | nth-like DNA glycosylase 1 |
Gene Aliases: |
FAP3, NTH1, OCTS3, hNTH1 |
Location: |
Chr.16:2039815-2047872 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NTHL1 | NM_001318193.1 | NP_001305122.1 | ||
NM_001318194.1 | NP_001305123.1 | |||
NM_002528.6 | NP_002519.1 | |||
XM_017023253.1 | XP_016878742.1 | |||
AB001575.1 | BAA19413.1 | |||
BC000391.2 | AAH00391.2 | |||
BC003014.1 | AAH03014.1 | |||
HY057336.1 | ||||
HY094895.1 | ||||
U79718.1 | AAB41534.1 | |||
U81285.1 | AAC51136.1 | |||
Y09687.1 | CAA70865.1 |
Target Gene Details
Entrez Gene ID: | 7249 |
Gene Name: | tuberous sclerosis 2 |
Gene Aliases: |
LAM, PPP1R160, TSC4 |
Location: |
Chr.16:2047804-2088720 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TSC2 | XM_011522638.2 | XP_011520940.2 | ||
XM_017023617.1 | XP_016879106.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2422427 | Chr.16:10001 - 2723164 on Build GRCh38 | Duplication |
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nsv471072 | Chr.16:1971892 - 2317508 on Build GRCh38 | Loss |
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nsv952901 | Chr.16:1888800 - 2135899 on Build GRCh38 | Deletion |
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nsv1160329 | Chr.16:1961727 - 2128574 on Build GRCh38 | Deletion |
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![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Set Membership: |
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Panther Classification:
Molecular Function -
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_next.png)
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![](/order/genome-database/details/genotyping/assets/img/arrow_icon_next.png)
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_next.png)
Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)