Assay Details
Target Gene Details
Entrez Gene ID: | 23155 |
Gene Name: | chloride channel CLIC like 1 |
Gene Aliases: |
MCLC |
Location: |
Chr.1:108929508-108963499 on Build GRCh38 |
Assay Gene Location: | Within Exon 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CLCC1 | NM_001048210.2 | 12 | 2884 | NP_001041675.1 |
NM_001278202.1 | 9 | 2392 | NP_001265131.1 | |
NM_001278203.1 | 7 | 2200 | NP_001265132.1 | |
NM_015127.4 | 12 | 2744 | NP_055942.1 | |
AB018304.2 | 11 | 2745 | BAA34481.2 | |
AK090563.1 | ||||
BQ685798.1 | 1 | 41 | ||
DA247339.1 | 1 | 305 |
Target Gene Details
Entrez Gene ID: | 29899 |
Gene Name: | G-protein signaling modulator 2 |
Gene Aliases: |
CMCS, DFNB82, LGN, PINS |
Location: |
Chr.1:108875350-108934335 on Build GRCh38 |
Assay Gene Location: | Within Exon 19 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GPSM2 | NM_001321039.1 | 16 | 2733 | NP_001307968.1 |
XM_006710589.2 | 14 | 4529 | XP_006710652.1 | |
XM_011541301.2 | 16 | 4347 | XP_011539603.1 | |
AB445462.1 | 16 | 2733 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv526049 | Chr.1:108930432 - 108941353 on Build GRCh38 | Loss | CLCC1 GPSM2 |
nsv547425 | Chr.1:108873603 - 109035828 on Build GRCh38 | Gain | WDR47 CLCC1 GPSM2 |
dgv251n100 | Chr.1:108930151 - 108955511 on Build GRCh38 | Loss | CLCC1 GPSM2 |
nsv831026 | Chr.1:108924711 - 109119614 on Build GRCh38 | Loss | WDR47 TAF13 C1orf194 CLCC1 SCARNA2 KIAA1324 GPSM2 TMEM167B |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |