Assay Details
Target Gene Details
Entrez Gene ID: | 94104 |
Gene Name: | PAX3 and PAX7 binding protein 1 |
Gene Aliases: |
BM020, C21orf66, FSAP105, GCFC, GCFC1 |
Location: |
Chr.21:32733899-32771858 on Build GRCh38 |
Assay Gene Location: | Within Intron 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PAXBP1 | NM_013329.3 | NP_037461.2 | ||
NM_016631.3 | NP_057715.2 | |||
NR_027873.1 | ||||
XM_006724066.1 | XP_006724129.1 | |||
AF153208.1 | AAD34617.1 | |||
AF231920.1 | AAF72944.1 | |||
AJ279080.1 | CAC40813.1 | |||
AJ279081.1 | CAC40814.1 | |||
AK093291.1 | ||||
AK128513.1 | ||||
AY033903.1 | AAK68721.1 | |||
AY033904.1 | AAK68722.1 | |||
AY033906.1 | AAK68724.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3646891 | Chr.21:32675352 - 32751209 on Build GRCh38 | Gain | SYNJ1 PAXBP1-AS1 PAXBP1 |
nsv834086 | Chr.21:32710449 - 32883526 on Build GRCh38 | Loss | C21orf62 SYNJ1 PAXBP1-AS1 PAXBP1 C21orf62-AS1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |