Genomic Map
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Target Gene Details
Entrez Gene ID: | 8514 |
Gene Name: | potassium voltage-gated channel subfamily A regulatory beta subunit 2 |
Gene Aliases: |
AKR6A5, HKvbeta2, HKvbeta2.1, HKvbeta2.2, KCNA2B, KV-BETA-2 |
Location: |
Chr.1:5992298-6101193 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 1 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| KCNAB2 | NM_001199861.1 | NP_001186790.1 |
Target Gene Details
Entrez Gene ID: | 261734 |
Gene Name: | nephronophthisis 4 |
Gene Aliases: |
POC10, SLSN4 |
Location: |
Chr.1:5862808-5992473 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| NPHP4 | NM_001291593.1 | 1 | 164 | NP_001278522.1 |
| NM_001291594.1 | 1 | 164 | NP_001278523.1 | |
| NM_015102.4 | 1 | 164 | NP_055917.1 | |
| NR_111987.1 | 1 | 164 | ||
| XM_006710563.3 | XP_006710626.1 | |||
| XM_017000999.1 | XP_016856488.1 | |||
| AF537130.1 | 1 | 162 | AAN06814.1 | |
| AK124074.1 | 1 | 117 | ||
| AK314326.1 | 1 | 138 | ||
| AY118228.1 | 1 | 99 | AAM78558.1 | |
| BC040520.1 | 1 | 165 | AAH40520.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv545173 | Chr.1:5833391 - 6025293 on Build GRCh38 | Gain |
 MIR4689
NPHP4
KCNAB2
|
| nsv1008071 | Chr.1:5892183 - 6084478 on Build GRCh38 | Loss |
NPHP4
KCNAB2
|
| nsv545175 | Chr.1:5947386 - 5993570 on Build GRCh38 | Loss |
NPHP4
KCNAB2
|
| nsv831314 | Chr.1:5889409 - 6062997 on Build GRCh38 | Loss |
NPHP4
KCNAB2
|
Back To TopMore Information
Set Membership: |
Intragenic
Exonic
Non-exonic
DGV Variation
|
Gene Ontology Categories:
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