Assay Details
Target Gene Details
Entrez Gene ID: | 3768 |
Gene Name: | potassium voltage-gated channel subfamily J member 12 |
Gene Aliases: |
IRK-2, IRK2, KCNJN1, Kir2.2, Kir2.2v, hIRK, hIRK1, hkir2.2x, kcnj12x |
Location: |
Chr.17:21376387-21419870 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
KCNJ12 | NM_021012.4 | NP_066292.2 | ||
XM_005256625.4 | XP_005256682.1 | |||
BC027982.1 | AAH27982.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2758681 | Chr.17:21347629 - 22591105 on Build GRCh38 | Gain+Loss | C17orf51 KCNJ12 LOC100996792 FAM27E5 KCNJ18 UBBP4 FLJ36000 MTRNR2L1 |
nsv953854 | Chr.17:21362389 - 21399888 on Build GRCh38 | Deletion | KCNJ12 |
nsv574600 | Chr.17:21358248 - 21399695 on Build GRCh38 | Gain | KCNJ12 |
esv2660756 | Chr.17:21351628 - 22533668 on Build GRCh38 | Deletion | C17orf51 KCNJ12 LOC100996792 FAM27E5 KCNJ18 UBBP4 FLJ36000 MTRNR2L1 |
nsv1059146 | Chr.17:20849194 - 22546654 on Build GRCh38 | Gain | LINC01563 MAP2K3 C17orf51 LOC339260 KCNJ12 LOC100996792 NATD1 CCDC144NL-AS1 FAM27E5 KCNJ18 FLJ36000 TMEM11 DHRS7B USP22 CCDC144NL LOC105369205 UBBP4 MTRNR2L1 |
esv3640231 | Chr.17:21322670 - 21399894 on Build GRCh38 | Gain | KCNJ12 |
dgv363n27 | Chr.17:21352097 - 21533320 on Build GRCh38 | Gain | C17orf51 KCNJ12 |
dgv3123n100 | Chr.17:21328740 - 21641965 on Build GRCh38 | Gain | C17orf51 KCNJ12 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |