Assay Details
Target Gene Details
Entrez Gene ID: | 1827 |
Gene Name: | regulator of calcineurin 1 |
Gene Aliases: |
ADAPT78, CSP1, DSC1, DSCR1, MCIP1, RCN1 |
Location: |
Chr.21:34516442-34615142 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 7 - Exon 8 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv587428 | Chr.21:34515061 - 34543424 on Build GRCh38 | Loss | RCAN1 |
dgv7824n54 | Chr.21:34352440 - 34535115 on Build GRCh38 | Gain | C21orf140 KCNE2 RCAN1 SMIM11A LOC105372793 KCNE1 LOC388820 |
dgv4426n100 | Chr.21:34339322 - 34534919 on Build GRCh38 | Gain | C21orf140 KCNE2 RCAN1 SMIM11A LOC105372793 KCNE1 LOC388820 |
esv3575386 | Chr.21:34353927 - 34534570 on Build GRCh38 | Gain | C21orf140 KCNE2 RCAN1 SMIM11A LOC105372793 KCNE1 LOC388820 |
esv2762109 | Chr.21:34350696 - 34531755 on Build GRCh38 | Gain | C21orf140 KCNE2 RCAN1 SMIM11A LOC105372793 KCNE1 LOC388820 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |