Assay Details
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 | 6787 | NP_001812.2 |
AK000933.1 | 1 | 2279 | ||
AK023423.1 | 1 | 1791 | ||
BI088411.1 | ||||
CB160778.1 | 1 | 284 |
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 | RGS7 WDR64 KMO CHML OPN3 FH |
nsv1002214 | Chr.1:241295639 - 241936488 on Build GRCh38 | Gain | RGS7 WDR64 KMO CHML EXO1 OPN3 FH |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |