Assay Details
Target Gene Details
Entrez Gene ID: | 64921 |
Gene Name: | CAS1 domain containing 1 |
Gene Aliases: |
C7orf12, NBLA04196 |
Location: |
Chr.7:94509858-94633465 on Build GRCh38 |
Assay Gene Location: | Within Intron 20 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CASD1 | XM_011516495.2 | XP_011514797.1 |
Target Gene Details
Entrez Gene ID: | 8910 |
Gene Name: | sarcoglycan epsilon |
Gene Aliases: |
DYT11, ESG |
Location: |
Chr.7:94585224-94656209 on Build GRCh38 |
Assay Gene Location: | Within Exon 17 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SGCE | NM_001099400.1 | NP_001092870.1 | ||
NM_001099401.1 | NP_001092871.1 | |||
NM_001301139.1 | NP_001288068.1 | |||
NM_003919.2 | NP_003910.1 | |||
XM_005250675.4 | XP_005250732.1 | |||
XM_005250677.4 | XP_005250734.1 | |||
XM_011516663.2 | 12 | 2989 | XP_011514965.1 | |
XM_011516664.2 | 11 | 2962 | XP_011514966.1 | |
XM_011516665.2 | 11 | 2884 | XP_011514967.1 | |
XM_011516666.2 | 10 | 2857 | XP_011514968.1 | |
XM_011516667.2 | 13 | 3021 | XP_011514969.1 | |
XM_011516669.2 | 12 | 2927 | XP_011514971.1 | |
XM_017012763.1 | 12 | 2857 | XP_016868252.1 | |
XM_017012764.1 | XP_016868253.1 | |||
XM_017012765.1 | XP_016868254.1 | |||
XM_017012766.1 | XP_016868255.1 | |||
XM_017012767.1 | 11 | 2913 | XP_016868256.1 | |
XM_017012768.1 | XP_016868257.1 | |||
XM_017012769.1 | XP_016868258.1 | |||
AB117974.1 | BAD21206.1 | |||
AF031920.1 | AAC14021.1 | |||
AF036364.1 | AAC04368.1 | |||
AF516515.1 | AAM64204.1 | |||
AJ000534.1 | CAA04167.1 | |||
AK298220.1 | ||||
AK313438.1 | ||||
AL547747.3 | ||||
AY359042.1 | AAQ89401.1 | |||
BC021709.2 | AAH21709.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2422248 | Chr.7:94543833 - 94955318 on Build GRCh38 | Duplication | PPP1R9A PEG10 SGCE CASD1 |
nsv1023193 | Chr.7:93602376 - 95828660 on Build GRCh38 | Gain | PEG10 TFPI2 GNGT1 DYNC1I1 PON1 BET1 CASD1 PPP1R9A PON2 COL1A2 MIR4652 GNG11 PON3 SGCE PDK4 LOC105375405 LOC105375401 ASB4 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |