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 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RCAN1 | NM_001285389.2 | 2 | 121 | NP_001272318.1 |
NM_001285391.2 | 2 | 444 | NP_001272320.2 | |
NM_001285392.2 | 2 | 238 | NP_001272321.1 | |
NM_001285393.2 | 2 | 175 | NP_001272322.1 | |
NM_004414.6 | 2 | 447 | NP_004405.3 | |
NM_203417.2 | 2 | 233 | NP_981962.1 | |
NM_203418.2 | 2 | 412 | NP_981963.1 | |
XM_005260929.1 | 2 | 368 | XP_005260986.1 | |
XM_005260930.1 | 2 | 356 | XP_005260987.1 | |
XM_017028282.1 | 3 | 773 | XP_016883771.1 | |
XM_017028283.1 | 3 | 773 | XP_016883772.1 | |
AF400429.1 | 2 | 105 | AAK92478.1 | |
AK055845.1 | 1 | 643 | ||
AK092184.1 | 2 | 368 | ||
AK131569.1 | 2 | 365 | BAD18702.1 | |
AK293293.1 | 2 | 226 | ||
AK299444.1 | 2 | 162 | ||
AL556803.3 | 2 | 447 | ||
AY325903.1 | 2 | 439 | AAP96743.1 | |
BC002864.2 | 2 | 207 | AAH02864.1 | |
BT007363.1 | 2 | 151 | AAP36027.1 | |
BX419260.2 | 2 | 365 | ||
CR456878.1 | 1 | 73 | CAG33159.1 | |
CR542065.1 | 2 | 151 | CAG46862.1 | |
DA503835.1 | 3 | 328 | ||
DA586027.1 | 2 | 175 | ||
DB023862.1 | 2 | 238 | ||
DC331441.1 | 2 | 412 | ||
U28833.2 | 2 | 121 | AAB81557.1 | |
U85265.2 | 2 | 232 | AAB84370.1 | |
U85266.2 | 2 | 175 | AAB84371.2 | |
U85267.2 | 2 | 294 | 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 | LOC388820 SMIM11A C21orf140 KCNE2 KCNE1 RCAN1 LOC105372793 |
dgv4426n100 | Chr.21:34339322 - 34534919 on Build GRCh38 | Gain | LOC388820 SMIM11A C21orf140 KCNE2 KCNE1 RCAN1 LOC105372793 |
esv3575386 | Chr.21:34353927 - 34534570 on Build GRCh38 | Gain | LOC388820 SMIM11A C21orf140 KCNE2 KCNE1 RCAN1 LOC105372793 |
esv2762109 | Chr.21:34350696 - 34531755 on Build GRCh38 | Gain | LOC388820 SMIM11A C21orf140 KCNE2 KCNE1 RCAN1 LOC105372793 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |