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CCDC189 (Coiled-Coil Domain Containing 189) is a Protein Coding gene. Diseases associated with CCDC189 include Phosphorylase Kinase Deficiency. An important paralog of this gene is C8orf74.
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | C16H16orf93 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | C25H16orf93 30 |
|
||
C16orf93 31 |
|
OneToOne | |||
Dog (Canis familiaris) |
Mammalia | C6H16orf93 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | LOC691909 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Gm166 30 31 |
|
OneToOne | |
Ccdc189 17 |
|
||||
Oppossum (Monodelphis domestica) |
Mammalia | C16orf93 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | C16orf93 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | C16orf93 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100493957 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100151516 30 |
|
||
C12H16orf93 31 |
|
OneToOne | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs371856479 | Uncertain Significance: Glycogen phosphorylase kinase deficiency | 30,758,232(-) | C/T | THREE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
rs768683366 | Uncertain Significance: Glycogen phosphorylase kinase deficiency | 30,757,643(-) | C/T | MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
rs886051915 | Uncertain Significance: Glycogen phosphorylase kinase deficiency | 30,757,308(-) | C/T | THREE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
rs886051916 | Likely Benign: Glycogen phosphorylase kinase deficiency | 30,757,687(-) | G/A | THREE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
rs886051917 | Uncertain Significance: Glycogen phosphorylase kinase deficiency | 30,757,943(-) | A/G | THREE_PRIME_UTR_VARIANT,INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
phosphorylase kinase deficiency |
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|