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: | Overlaps Intron 5 - Exon 6 |
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 | 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 | 1966 | NP_000285.1 |
NM_001172432.1 | NP_001165903.1 | |||
AB209055.1 | 5 | 1355 | BAD92292.1 | |
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 | SRCAP RNF40 PRR14 TMEM265 ZNF629 FBRS PHKG2 LOC730183 SNORA30 CCDC189 |
nsv833188 | Chr.16:30621125 - 30828942 on Build GRCh38 | Loss | SRCAP RNF40 PRR14 TMEM265 ZNF629 FBRS PHKG2 LOC730183 SNORA30 CCDC189 |
More Information
Set Membership: |
Intragenic Exonic Non-exonic DGV Variation |