Assay Details
Target Gene Details
Entrez Gene ID: | 6315 |
Gene Name: | ATXN8 opposite strand (non-protein coding) |
Gene Aliases: |
KLHL1AS, NCRNA00003, SCA8 |
Location: |
Chr.13:70107213-70139753 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ATXN8OS | NR_002717.2 |
Target Gene Details
Entrez Gene ID: | 57626 |
Gene Name: | kelch like family member 1 |
Gene Aliases: |
MRP2 |
Location: |
Chr.13:69700593-70108493 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
KLHL1 | NM_001286725.1 | 1 | 324 | NP_001273654.1 |
NM_020866.2 | 1 | 324 | NP_065917.1 | |
AB040923.1 | 1 | 290 | ||
AF252283.1 | 1 | 158 | AAF81719.1 | |
AK291435.1 | 1 | 324 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1051815 | Chr.13:69996822 - 70161932 on Build GRCh38 | Gain |
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nsv1053979 | Chr.13:70079770 - 70208426 on Build GRCh38 | Loss |
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nsv455967 | Chr.13:70066513 - 70131876 on Build GRCh38 | Loss |
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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:
Gene Ontology Categories:
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