Product Details
- SNP ID
-
rs149107701
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.16:19527984 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCCTGCTCAGTCTGAAAGTATCTCA[C/T]TTATTCGCTTTCATGGAGTGGCTAT
- Phenotype
-
MIM: 609544
MIM: 605943
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CCP110
PubMed Links
Gene Details
- Gene
- CCP110
- Gene Name
- centriolar coiled-coil protein 110
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001199022.2 |
493 |
Missense Mutation |
CTT,TTT |
L35F |
NP_001185951.2 |
| NM_001323569.1 |
493 |
Missense Mutation |
CTT,TTT |
L35F |
NP_001310498.1 |
| NM_001323570.1 |
493 |
Missense Mutation |
CTT,TTT |
L35F |
NP_001310499.1 |
| NM_001323571.1 |
493 |
Missense Mutation |
CTT,TTT |
L35F |
NP_001310500.1 |
| NM_001323572.1 |
493 |
Missense Mutation |
CTT,TTT |
L35F |
NP_001310501.1 |
| NM_001323576.1 |
493 |
Missense Mutation |
CTT,TTT |
L35F |
NP_001310505.1 |
| NM_001323577.1 |
493 |
Missense Mutation |
CTT,TTT |
L35F |
NP_001310506.1 |
| NM_014711.5 |
493 |
Missense Mutation |
CTT,TTT |
L35F |
NP_055526.4 |
| XM_011545991.2 |
493 |
Missense Mutation |
CTT,TTT |
L35F |
XP_011544293.1 |
| XM_011545992.2 |
493 |
Missense Mutation |
CTT,TTT |
L35F |
XP_011544294.1 |
| XM_017023908.1 |
493 |
Missense Mutation |
CTT,TTT |
L35F |
XP_016879397.1 |
- Gene
- GDE1
- Gene Name
- glycerophosphodiester phosphodiesterase 1
There are no transcripts associated with this gene.
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