Product Details
- SNP ID
-
rs143239070
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.16:30759398 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AAGTGGCGGAAGTAAGTGTTGACCA[C/T]GTAGTCTTCCAAGGCCAGCAGCTGT
- 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 |
1262 |
Missense Mutation |
ATG,GTG |
M201V |
NP_001014979.2 |
| NM_001195620.1 |
1262 |
Intron |
|
|
NP_001182549.1 |
| XM_011545976.1 |
1262 |
Missense Mutation |
ATG,GTG |
M201V |
XP_011544278.1 |
| XM_011545978.1 |
1262 |
Silent Mutation |
ACA,ACG |
T172T |
XP_011544280.1 |
| XM_017023852.1 |
1262 |
Missense Mutation |
ATG,GTG |
M266V |
XP_016879341.1 |
| XM_017023853.1 |
1262 |
Missense Mutation |
ATG,GTG |
M245V |
XP_016879342.1 |
| XM_017023854.1 |
1262 |
Missense Mutation |
ATG,GTG |
M266V |
XP_016879343.1 |
| XM_017023855.1 |
1262 |
Missense Mutation |
ATG,GTG |
M234V |
XP_016879344.1 |
| XM_017023856.1 |
1262 |
Missense Mutation |
ATG,GTG |
M229V |
XP_016879345.1 |
| XM_017023857.1 |
1262 |
Missense Mutation |
ATG,GTG |
M197V |
XP_016879346.1 |
| XM_017023858.1 |
1262 |
Missense Mutation |
ATG,GTG |
M266V |
XP_016879347.1 |
| XM_017023859.1 |
1262 |
Silent Mutation |
ACA,ACG |
T224T |
XP_016879348.1 |
| XM_017023860.1 |
1262 |
Missense Mutation |
ATG,GTG |
M127V |
XP_016879349.1 |
| XM_017023861.1 |
1262 |
Silent Mutation |
ACA,ACG |
T224T |
XP_016879350.1 |
| XM_017023862.1 |
1262 |
Missense Mutation |
ATG,GTG |
M95V |
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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