Assay Details
Target Gene Details
Entrez Gene ID: | 285 |
Gene Name: | angiopoietin 2 |
Gene Aliases: |
AGPT2, ANG2 |
Location: |
Chr.8:6499651-6563420 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ANGPT2 | NM_001118887.1 | 1 | 471 | NP_001112359.1 |
NM_001118888.1 | 1 | 471 | NP_001112360.1 | |
NM_001147.2 | 1 | 471 | NP_001138.1 | |
XM_017013318.1 | 1 | 628 | XP_016868807.1 | |
AB009865.1 | 1 | 170 | BAA95590.1 | |
AF004327.1 | 1 | 491 | AAB63190.1 | |
AF187858.1 | 1 | 162 | AAF76526.1 | |
AF218015.1 | 1 | 224 | AAG17257.1 | |
AJ289781.1 | 1 | 617 | CAC08180.1 | |
AK075219.1 | 1 | 453 | ||
AK225698.1 | 1 | 453 | ||
AK290070.1 | 1 | 453 | ||
AK310171.1 | 1 | 453 | ||
AK312541.1 | 1 | 453 | ||
BC126200.1 | 1 | 199 | ||
BC126202.1 | 1 | 199 | ||
BC143902.1 | 1 | 199 | ||
DA829327.1 | 1 | 471 |
Target Gene Details
Entrez Gene ID: | 79648 |
Gene Name: | microcephalin 1 |
Gene Aliases: |
BRIT1, MCT |
Location: |
Chr.8:6406592-6648505 on Build GRCh38 |
Assay Gene Location: | Within Intron 17 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MCPH1 | NM_001322042.1 | NP_001308971.1 | ||
NM_024596.4 | NP_078872.2 | |||
XM_011534755.2 | XP_011533057.1 | |||
XM_011534760.2 | XP_011533062.1 | |||
XM_017013829.1 | XP_016869318.1 | |||
XM_017013830.1 | XP_016869319.1 | |||
XM_017013831.1 | XP_016869320.1 | |||
XM_017013832.1 | XP_016869321.1 | |||
XM_017013833.1 | XP_016869322.1 | |||
XM_017013834.1 | XP_016869323.1 | |||
AI480294.1 | ||||
AK022909.1 | BAB14304.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1021684 | Chr.8:6492570 - 6951933 on Build GRCh38 | Loss | AGPAT5 DEFA4 DEFA8P XKR5 DEFB1 MIR8055 MCPH1 MIR4659A DEFA6 MCPH1-AS1 MIR4659B GS1-24F4.2 ANGPT2 |
nsv610004 | Chr.8:6544845 - 6915391 on Build GRCh38 | Gain | AGPAT5 MIR4659A MCPH1-AS1 XKR5 DEFB1 MIR4659B MIR8055 GS1-24F4.2 ANGPT2 MCPH1 |
esv2422383 | Chr.8:6504868 - 6924071 on Build GRCh38 | Duplication | AGPAT5 MIR4659A MCPH1-AS1 XKR5 DEFB1 MIR4659B MIR8055 GS1-24F4.2 ANGPT2 MCPH1 |
esv3616094 | Chr.8:6548175 - 6638852 on Build GRCh38 | Gain | MCPH1-AS1 MIR8055 ANGPT2 MCPH1 |
esv3891314 | Chr.8:6508098 - 6604281 on Build GRCh38 | Gain | ANGPT2 MCPH1 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |