Product Details
- SNP ID
-
rs201418865
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.16:30757636 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GTTCACTTGGGTCTTGATGTAGGCT[C/T]GGAGGACGTGGATGTGGCCTGCAGG
- Phenotype
-
MIM: 172471
MIM: 607700
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CCDC189
PubMed Links
Gene Details
- Gene
- CCDC189
- Gene Name
- coiled-coil domain containing 189
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001014979.2 |
1497 |
Missense Mutation |
CCA,CTA |
P279L |
NP_001014979.2 |
| NM_001195620.1 |
1497 |
Intron |
|
|
NP_001182549.1 |
| XM_011545976.1 |
1497 |
Missense Mutation |
CCA,CTA |
P249L |
XP_011544278.1 |
| XM_011545978.1 |
1497 |
Silent Mutation |
CCC,CCT |
P197P |
XP_011544280.1 |
| XM_017023852.1 |
1497 |
Missense Mutation |
CCA,CTA |
P344L |
XP_016879341.1 |
| XM_017023853.1 |
1497 |
Missense Mutation |
CCA,CTA |
P323L |
XP_016879342.1 |
| XM_017023854.1 |
1497 |
Missense Mutation |
CCA,CTA |
P314L |
XP_016879343.1 |
| XM_017023855.1 |
1497 |
Missense Mutation |
CCA,CTA |
P312L |
XP_016879344.1 |
| XM_017023856.1 |
1497 |
Missense Mutation |
CCA,CTA |
P307L |
XP_016879345.1 |
| XM_017023857.1 |
1497 |
Missense Mutation |
CCA,CTA |
P245L |
XP_016879346.1 |
| XM_017023858.1 |
1497 |
Nonsense Mutation |
CAG,TAG |
Q291* |
XP_016879347.1 |
| XM_017023859.1 |
1497 |
Silent Mutation |
CCC,CCT |
P249P |
XP_016879348.1 |
| XM_017023860.1 |
1497 |
Missense Mutation |
CCA,CTA |
P205L |
XP_016879349.1 |
| XM_017023861.1 |
1497 |
UTR 3 |
|
|
XP_016879350.1 |
| XM_017023862.1 |
1497 |
Missense Mutation |
CCA,CTA |
P173L |
XP_016879351.1 |
- Gene
- PHKG2
- Gene Name
- phosphorylase kinase catalytic subunit gamma 2
- Gene
- RNF40
- Gene Name
- ring finger protein 40
There are no transcripts associated with this gene.
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