Assay Details
Target Gene Details
Entrez Gene ID: | 5081 |
Gene Name: | paired box 7 |
Gene Aliases: |
HUP1, PAX7B, RMS2 |
Location: |
Chr.1:18631006-18748866 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PAX7 | NM_001135254.1 | NP_001128726.1 | ||
NM_002584.2 | NP_002575.1 | |||
NM_013945.2 | NP_039236.1 | |||
BC121165.2 | ||||
BC121166.2 | ||||
DQ322591.1 | ABC48797.1 | |||
X96743.1 | CAA65520.1 | |||
Z35141.1 | CAA84513.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1006958 | Chr.1:18489777 - 18746432 on Build GRCh38 | Gain | PAX7 |
nsv1008797 | Chr.1:18629403 - 18677739 on Build GRCh38 | Gain | PAX7 |
nsv4965 | Chr.1:18605318 - 18638892 on Build GRCh38 | Insertion | PAX7 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |