Assay Details
Target Gene Details
Entrez Gene ID: | 368 |
Gene Name: | ATP binding cassette subfamily C member 6 |
Gene Aliases: |
ABC34, ARA, EST349056, GACI2, MLP1, MOAT-E, MOATE, MRP6, PXE, PXE1, URG7 |
Location: |
Chr.16:16149565-16223616 on Build GRCh38 |
Assay Gene Location: | Within Intron 15 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ABCC6 | NM_001171.5 | NP_001162.4 | ||
XM_011522479.2 | XP_011520781.1 | |||
XM_011522480.1 | XP_011520782.1 | |||
XM_011522481.2 | XP_011520783.1 | |||
XM_011522482.2 | XP_011520784.1 | |||
XM_017023212.1 | XP_016878701.1 | |||
XM_017023213.1 | XP_016878702.1 | |||
XM_017023214.1 | XP_016878703.1 | |||
AF076622.1 | AAC79696.1 | |||
AF168791.1 | AAD51293.1 | |||
AK298295.1 | ||||
AM711638.1 | ||||
AM774324.1 | ||||
BC131732.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2758633 | Chr.16:16091360 - 16829931 on Build GRCh38 | Gain+Loss | NPIPA7 MIR6770-2 MIR3180-2 PKD1P1 NOMO3 PKD1P2 MIR6511A2 ABCC6 MIR3670-2 MIR3179-2 ABCC1 MIR6511A3 |
esv3638050 | Chr.16:16008227 - 16214274 on Build GRCh38 | Gain | ABCC6 ABCC1 |
nsv435664 | Chr.16:15247194 - 18197960 on Build GRCh38 | Deletion | MIR6770-2 MIR3180-2 NPIPA5 XYLT1 PKD1P1 FOPNL C16orf45 NOMO3 PKD1P2 MIR6511A2 LOC102723692 ABCC6 MIR3670-2 MIR3179-2 ABCC1 MIR6506 MPV17L NDE1 NPIPA7 KIAA0430 MYH11 MIR6511A3 MIR484 |
nsv457437 | Chr.16:16127001 - 16195675 on Build GRCh38 | Gain | ABCC6 ABCC1 |
nsv469785 | Chr.16:16127738 - 16284512 on Build GRCh38 | Gain+Loss | NOMO3 ABCC6 ABCC1 |
nsv1047898 | Chr.16:15388065 - 18284986 on Build GRCh38 | Loss | MIR6770-2 MIR3180-2 XYLT1 PKD1P1 FOPNL C16orf45 NOMO3 PKD1P2 MIR6511A2 LOC102723692 ABCC6 MIR3670-2 MIR3179-2 ABCC1 MIR6506 MPV17L NDE1 NPIPA7 KIAA0430 MYH11 MIR6511A3 MIR484 |
nsv1053451 | Chr.16:15966537 - 16196638 on Build GRCh38 | Gain | ABCC6 ABCC1 |
nsv457428 | Chr.16:15386022 - 18071186 on Build GRCh38 | Gain | MIR6770-2 MIR3180-2 XYLT1 PKD1P1 FOPNL C16orf45 NOMO3 PKD1P2 MIR6511A2 LOC102723692 ABCC6 MIR3670-2 MIR3179-2 ABCC1 MIR6506 MPV17L NDE1 NPIPA7 KIAA0430 MYH11 MIR6511A3 MIR484 |
nsv1125134 | Chr.16:15180201 - 18091718 on Build GRCh38 | Deletion | MIR6770-2 MIR3180-2 NPIPA5 XYLT1 PKD1P1 FOPNL C16orf45 NOMO3 PKD1P2 MIR6511A2 LOC102723692 ABCC6 MIR3670-2 MIR3179-2 ABCC1 MIR6506 MPV17L NDE1 NPIPA7 KIAA0430 MYH11 MIR6511A3 MIR484 |
esv2714015 | Chr.16:15292092 - 18247911 on Build GRCh38 | Deletion | MIR6770-2 MIR3180-2 NPIPA5 XYLT1 PKD1P1 FOPNL C16orf45 NOMO3 PKD1P2 MIR6511A2 LOC102723692 ABCC6 MIR3670-2 MIR3179-2 ABCC1 MIR6506 MPV17L NDE1 NPIPA7 KIAA0430 MYH11 MIR6511A3 MIR484 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |