Product Details
- SNP ID
-
rs3809197
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:96489640 on Build GRCh38
- Set Membership
-
HapMap
- Context Sequence [VIC/FAM]
- GGCGCAGGGCTCCCCCTCGAGCTCT[C/T]CGTCAGACGACTCTACCACCTCGGG
- Phenotype
-
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CFAP54
PubMed Links
Gene Details
- Gene
- CFAP54
- Gene Name
- cilia and flagella associated protein 54
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001306084.1 |
75 |
Missense Mutation |
CCG,TCG |
P11S |
NP_001293013.1 |
XM_011539069.2 |
75 |
Missense Mutation |
CCG,TCG |
P11S |
XP_011537371.1 |
XM_011539070.2 |
75 |
Missense Mutation |
CCG,TCG |
P11S |
XP_011537372.1 |
XM_011539071.2 |
75 |
Missense Mutation |
CCG,TCG |
P11S |
XP_011537373.1 |
XM_011539072.2 |
75 |
Missense Mutation |
CCG,TCG |
P11S |
XP_011537374.1 |
XM_011539073.2 |
75 |
Missense Mutation |
CCG,TCG |
P11S |
XP_011537375.1 |
XM_011539074.2 |
75 |
Missense Mutation |
CCG,TCG |
P11S |
XP_011537376.1 |
XM_011539076.2 |
75 |
Missense Mutation |
CCG,TCG |
P11S |
XP_011537378.1 |
XM_011539077.2 |
75 |
Intron |
|
|
XP_011537379.1 |
XM_011539078.2 |
75 |
Missense Mutation |
CCG,TCG |
P11S |
XP_011537380.1 |
XM_011539079.1 |
75 |
Intron |
|
|
XP_011537381.1 |
XM_011539081.2 |
75 |
Missense Mutation |
CCG,TCG |
P11S |
XP_011537383.1 |
XM_011539083.2 |
75 |
Missense Mutation |
CCG,TCG |
P11S |
XP_011537385.1 |
XM_011539084.2 |
75 |
Missense Mutation |
CCG,TCG |
P11S |
XP_011537386.1 |
XM_011539085.1 |
75 |
Intron |
|
|
XP_011537387.1 |
XM_017018866.1 |
75 |
Missense Mutation |
CCG,TCG |
P11S |
XP_016874355.1 |
XM_017018867.1 |
75 |
Intron |
|
|
XP_016874356.1 |
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