Assay Details
Target Gene Details
Entrez Gene ID: | 65125 |
Gene Name: | WNK lysine deficient protein kinase 1 |
Gene Aliases: |
HSAN2, HSN2, KDP, PPP1R167, PRKWNK1, PSK, p65 |
Location: |
Chr.12:752552-911452 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
WNK1 | NM_001184985.1 | 1 | 675 | NP_001171914.1 |
NM_014823.2 | 1 | 675 | NP_055638.2 | |
NM_018979.3 | 1 | 675 | NP_061852.3 | |
NM_213655.4 | 1 | 675 | NP_998820.3 | |
XM_006719003.2 | 1 | 1000 | XP_006719066.1 | |
XM_011520997.2 | 1 | 1046 | XP_011519299.1 | |
XM_011520998.2 | 1 | 1000 | XP_011519300.1 | |
XM_011520999.2 | 1 | 1000 | XP_011519301.1 | |
XM_011521000.2 | 1 | 1000 | XP_011519302.1 | |
XM_011521001.2 | 1 | 1000 | XP_011519303.1 | |
XM_011521002.2 | 1 | 1000 | XP_011519304.1 | |
XM_011521003.2 | 1 | 1000 | XP_011519305.1 | |
XM_011521004.2 | 1 | 1000 | XP_011519306.1 | |
XM_011521006.2 | 1 | 1000 | XP_011519308.1 | |
XM_011521007.2 | 1 | 1000 | XP_011519309.1 | |
XM_011521008.2 | 1 | 1000 | XP_011519310.1 | |
XM_011521009.2 | 1 | 1000 | XP_011519311.1 | |
XM_017019834.1 | 1 | 1000 | XP_016875323.1 | |
XM_017019835.1 | 1 | 1000 | XP_016875324.1 | |
XM_017019836.1 | 1 | 1000 | XP_016875325.1 | |
XM_017019837.1 | 1 | 1000 | XP_016875326.1 | |
XM_017019838.1 | 1 | 1000 | XP_016875327.1 | |
XM_017019839.1 | 1 | 1000 | XP_016875328.1 | |
AF061944.1 | 1 | 675 | AAF31483.1 | |
AJ296290.1 | CAC15059.1 | |||
BC141881.1 | ||||
JQ358908.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2760688 | Chr.12:746699 - 767080 on Build GRCh38 | Loss | WNK1 |
dgv2251n54 | Chr.12:553282 - 1101718 on Build GRCh38 | Gain | WNK1 NINJ2 B4GALNT3 ERC1 LOC100049716 LOC105369595 RAD52 |
dgv2253n54 | Chr.12:741122 - 859323 on Build GRCh38 | Loss | WNK1 |
nsv556899 | Chr.12:741447 - 813242 on Build GRCh38 | Loss | WNK1 |
dgv1335n100 | Chr.12:739562 - 764851 on Build GRCh38 | Loss | WNK1 |
nsv556887 | Chr.12:523074 - 758338 on Build GRCh38 | Gain | WNK1 NINJ2 B4GALNT3 LOC100049716 LOC105369595 |
esv2759875 | Chr.12:225844 - 881378 on Build GRCh38 | Gain+Loss | WNK1 NINJ2 B4GALNT3 SLC6A13 KDM5A LOC102723544 LOC100049716 CCDC77 LOC105369595 |
nsv556893 | Chr.12:628064 - 873155 on Build GRCh38 | Gain | WNK1 NINJ2 LOC100049716 |
nsv518946 | Chr.12:745165 - 852170 on Build GRCh38 | Loss | WNK1 |
nsv1119925 | Chr.12:739873 - 764441 on Build GRCh38 | Deletion | WNK1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |