Assay Details
Target Gene Details
Entrez Gene ID: | 6833 |
Gene Name: | ATP binding cassette subfamily C member 8 |
Gene Aliases: |
ABC36, HHF1, HI, HRINS, MRP8, PHHI, SUR, SUR1, SUR1delta2, TNDM2 |
Location: |
Chr.11:17392885-17476870 on Build GRCh38 |
Assay Gene Location: | Within Exon 22 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ABCC8 | NM_000352.4 | 22 | 2673 | NP_000343.2 |
NM_001287174.1 | 22 | 2676 | NP_001274103.1 | |
XM_011520331.2 | 22 | 2698 | XP_011518633.1 | |
XM_017018197.1 | 22 | 2736 | XP_016873686.1 | |
XM_017018198.1 | 22 | 2733 | XP_016873687.1 | |
XM_017018199.1 | 22 | 2741 | XP_016873688.1 | |
XM_017018200.1 | 22 | 2691 | XP_016873689.1 | |
XM_017018201.1 | 22 | 2736 | XP_016873690.1 | |
XM_017018202.1 | 21 | 2537 | XP_016873691.1 | |
XM_017018203.1 | 22 | 2736 | XP_016873692.1 | |
XM_017018204.1 | 16 | 1649 | XP_016873693.1 | |
AB209084.1 | 22 | 2617 | BAD92321.1 | |
AF087138.1 | 22 | 2639 | AAC36724.1 | |
BU950000.1 | 7 | 480 | ||
L78207.1 | 22 | 2642 | AAB02278.1 | |
U63421.1 | 22 | 2604 | AAB36699.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv553567 | Chr.11:16890704 - 17946708 on Build GRCh38 | Gain | ABCC8 SNORD14B SNORD14A PIK3C2A PLEKHA7 OTOG OR7E14P SERGEF LOC105376575 NUCB2 KCNJ11 LOC102723330 USH1C RPS13 MYOD1 NCR3LG1 KCNC1 |
dgv59n21 | Chr.11:17379587 - 17413667 on Build GRCh38 | Loss | ABCC8 KCNJ11 |
esv3891935 | Chr.11:17405816 - 17416279 on Build GRCh38 | Loss | ABCC8 |
nsv467713 | Chr.11:17386478 - 17418926 on Build GRCh38 | Loss | ABCC8 KCNJ11 |
nsv469895 | Chr.11:17346723 - 17562673 on Build GRCh38 | Loss | ABCC8 LOC105376575 KCNJ11 OTOG USH1C NCR3LG1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |