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 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CCDC189 | NM_001014979.2 | NP_001014979.2 | ||
XM_011545976.1 | XP_011544278.1 | |||
XM_011545978.1 | XP_011544280.1 | |||
XM_017023852.1 | XP_016879341.1 | |||
XM_017023853.1 | XP_016879342.1 | |||
XM_017023854.1 | XP_016879343.1 | |||
XM_017023855.1 | XP_016879344.1 | |||
XM_017023856.1 | XP_016879345.1 | |||
XM_017023857.1 | XP_016879346.1 | |||
XM_017023858.1 | XP_016879347.1 | |||
XM_017023859.1 | XP_016879348.1 | |||
XM_017023860.1 | 2 | 208 | XP_016879349.1 | |
XM_017023861.1 | XP_016879350.1 | |||
XM_017023862.1 | XP_016879351.1 | |||
AL122109.2 | ||||
BC092491.1 | AAH92491.1 | |||
BC128128.1 | ||||
BC128129.1 |
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 | 4024 | NP_000285.1 |
NM_001172432.1 | NP_001165903.1 | |||
AB209055.1 | 5 | 3413 | BAD92292.1 | |
AK055943.1 | 1 | 836 | ||
AK293551.1 |
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 | LOC730183 CCDC189 SNORA30 ZNF629 RNF40 PHKG2 PRR14 TMEM265 FBRS SRCAP |
nsv9438 | Chr.16:30758882 - 30788121 on Build GRCh38 | Gain | CCDC189 ZNF629 RNF40 PHKG2 |
nsv833188 | Chr.16:30621125 - 30828942 on Build GRCh38 | Loss | LOC730183 CCDC189 SNORA30 ZNF629 RNF40 PHKG2 PRR14 TMEM265 FBRS SRCAP |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |