Product Details
- SNP ID
-
rs144861993
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
2
- Location
-
Chr.1:3816297 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TCCCTCACCTGGCTGCAGTGCCGGG[G/T]CCTTCTGCAGAATGTGTGTCTTGCG
- Phenotype
-
MIM: 616690
- Polymorphism
- G/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
CEP104
PubMed Links
Gene Details
- Gene
- CEP104
- Gene Name
- centrosomal protein 104
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_014704.3 |
3106 |
Missense Mutation |
GAC,GCC |
D882A |
NP_055519.1 |
XM_005244815.4 |
3106 |
Missense Mutation |
GAC,GCC |
D918A |
XP_005244872.1 |
XM_011542473.2 |
3106 |
Missense Mutation |
GAC,GCC |
D924A |
XP_011540775.1 |
XM_011542474.2 |
3106 |
Missense Mutation |
GAC,GCC |
D888A |
XP_011540776.1 |
XM_011542475.2 |
3106 |
Missense Mutation |
GAC,GCC |
D866A |
XP_011540777.1 |
XM_011542476.2 |
3106 |
Missense Mutation |
GAC,GCC |
D858A |
XP_011540778.1 |
XM_011542477.2 |
3106 |
Missense Mutation |
GAC,GCC |
D800A |
XP_011540779.1 |
XM_011542478.1 |
3106 |
Intron |
|
|
XP_011540780.1 |
XM_017002917.1 |
3106 |
Missense Mutation |
GAC,GCC |
D860A |
XP_016858406.1 |
XM_017002918.1 |
3106 |
Missense Mutation |
GAC,GCC |
D824A |
XP_016858407.1 |
XM_017002919.1 |
3106 |
Missense Mutation |
GAC,GCC |
D816A |
XP_016858408.1 |
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