Assay Details
Target Gene Details
Entrez Gene ID: | 90835 |
Gene Name: | coiled-coil domain containing 189 |
Gene Aliases: |
C16orf93 |
Location: |
Chr.16:30757226-30762277 on Build GRCh38 |
Assay Gene Location: | Within Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CCDC189 | XM_017023857.1 | 7 | 1804 | XP_016879346.1 |
XM_017023858.1 | 6 | 1653 | XP_016879347.1 | |
XM_017023862.1 | 7 | 2131 | XP_016879351.1 |
Target Gene Details
Entrez Gene ID: | 5261 |
Gene Name: | phosphorylase kinase catalytic subunit gamma 2 |
Gene Aliases: |
GSD9C |
Location: |
Chr.16:30748299-30761176 on Build GRCh38 |
Assay Gene Location: | Within Exon 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PHKG2 | NM_000294.2 | 10 | 1717 | NP_000285.1 |
NM_001172432.1 | NP_001165903.1 | |||
AB209055.1 | 5 | 1106 | BAD92292.1 | |
AK289492.1 | ||||
AK293551.1 | ||||
M31606.1 | AAA36442.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv469724 | Chr.16:30621124 - 30828942 on Build GRCh38 | Loss | TMEM265 SNORA30 SRCAP LOC730183 ZNF629 RNF40 PHKG2 CCDC189 FBRS PRR14 |
nsv833188 | Chr.16:30621125 - 30828942 on Build GRCh38 | Loss | TMEM265 SNORA30 SRCAP LOC730183 ZNF629 RNF40 PHKG2 CCDC189 FBRS PRR14 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |