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 Intron 21 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ABCC8 | NM_000352.4 | NP_000343.2 | ||
NM_001287174.1 | NP_001274103.1 | |||
XM_011520331.2 | XP_011518633.1 | |||
XM_017018197.1 | XP_016873686.1 | |||
XM_017018198.1 | XP_016873687.1 | |||
XM_017018199.1 | XP_016873688.1 | |||
XM_017018200.1 | XP_016873689.1 | |||
XM_017018201.1 | XP_016873690.1 | |||
XM_017018202.1 | XP_016873691.1 | |||
XM_017018203.1 | XP_016873692.1 | |||
XM_017018204.1 | XP_016873693.1 | |||
AB209084.1 | BAD92321.1 | |||
AF087138.1 | AAC36724.1 | |||
BU950000.1 | ||||
L78207.1 | AAB02278.1 | |||
U63421.1 | 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 | USH1C SNORD14A OR7E14P ABCC8 RPS13 SNORD14B NCR3LG1 LOC105376575 OTOG NUCB2 KCNC1 PIK3C2A LOC102723330 MYOD1 SERGEF KCNJ11 PLEKHA7 |
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 | OTOG USH1C ABCC8 NCR3LG1 KCNJ11 LOC105376575 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |