Genomic Map
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Target Gene Details
Entrez Gene ID: | 1122 |
Gene Name: | CHM like, Rab escort protein 2 |
Gene Aliases: |
REP2 |
Location: |
Chr.1:241628864-241635930 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| CHML | NM_001821.3 | 1 | 3379 | NP_001812.2 |
| BC117360.1 | 1 | 3249 | ||
| CN415289.1 |
Target Gene Details
Entrez Gene ID: | 23596 |
Gene Name: | opsin 3 |
Gene Aliases: |
ECPN, PPP1R116 |
Location: |
Chr.1:241593150-241640399 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| OPN3 | NM_014322.2 | NP_055137.2 | ||
| AF140242.1 | AAD32671.1 | |||
| AF303588.1 | AAK37447.1 | |||
| BC036773.1 | AAH36773.1 | |||
| BC062622.1 | AAH62622.1 | |||
| BC073872.1 | AAH73872.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv549460 | Chr.1:241331278 - 241669985 on Build GRCh38 | Gain |
 OPN3
KMO
CHML
WDR64
FH
RGS7
|
| nsv1002214 | Chr.1:241295639 - 241936488 on Build GRCh38 | Gain |
OPN3
KMO
CHML
WDR64
FH
EXO1
RGS7
|
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Additional Information:
For this assay, SNP(s) [rs80165134] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic
Exonic
Intronic
Non-exonic
DGV Variation
|
Panther Classification:
Molecular Function -
G-protein modulator
protein-binding activity modulator
G-protein coupled receptor
Gene Ontology Categories:
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