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: | Within Exon 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RCAN1 | NM_001285389.2 | 4 | 1285 | NP_001272318.1 |
NM_001285391.2 | 4 | 1608 | NP_001272320.2 | |
NM_001285392.2 | 4 | 1402 | NP_001272321.1 | |
NM_001285393.2 | 4 | 1339 | NP_001272322.1 | |
NM_004414.6 | 4 | 1611 | NP_004405.3 | |
NM_203417.2 | 4 | 1397 | NP_981962.1 | |
NM_203418.2 | 4 | 1576 | NP_981963.1 | |
XM_017028283.1 | 5 | 1937 | XP_016883772.1 | |
AK055845.1 | 3 | 1808 | ||
AK092184.1 | 4 | 1532 | ||
AK131569.1 | 4 | 1529 | BAD18702.1 | |
AY325903.1 | 4 | 1603 | AAP96743.1 | |
BC002864.2 | 4 | 1371 | AAH02864.1 | |
U28833.2 | 4 | 1285 | AAB81557.1 | |
U85265.2 | 4 | 1396 | AAB84370.1 | |
U85266.2 | 4 | 1339 | AAB84371.2 | |
U85267.2 | 4 | 1458 | AAB84372.1 |
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 | RCAN1 LOC105372793 KCNE2 C21orf140 KCNE1 LOC388820 SMIM11A |
dgv4426n100 | Chr.21:34339322 - 34534919 on Build GRCh38 | Gain | RCAN1 LOC105372793 KCNE2 C21orf140 KCNE1 LOC388820 SMIM11A |
esv3575386 | Chr.21:34353927 - 34534570 on Build GRCh38 | Gain | RCAN1 LOC105372793 KCNE2 C21orf140 KCNE1 LOC388820 SMIM11A |
esv2762109 | Chr.21:34350696 - 34531755 on Build GRCh38 | Gain | RCAN1 LOC105372793 KCNE2 C21orf140 KCNE1 LOC388820 SMIM11A |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |