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 Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ATXN8OS | NR_002717.2 | 1 | 322 |
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 | 960 | NP_001273654.1 |
NM_020866.2 | 1 | 960 | NP_065917.1 | |
AB040923.1 | 1 | 926 | ||
AF252283.1 | 1 | 794 | AAF81719.1 | |
AK054609.1 | 1 | 172 | ||
AK291435.1 | 1 | 960 | ||
AK295939.1 | 1 | 151 | ||
BC022460.1 | 1 | 204 | AAH22460.1 |
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 | ATXN8OS KLHL1 |
nsv1053979 | Chr.13:70079770 - 70208426 on Build GRCh38 | Loss | ATXN8OS KLHL1 |
nsv455967 | Chr.13:70066513 - 70131876 on Build GRCh38 | Loss | ATXN8OS KLHL1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |