Product Details
- SNP ID
-
rs114744558
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.3:138500410 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AATTAGGTCATCACCTAATTCTAAG[A/T]GTTCTTGGAGGTTTCTCACAGCATT
- Phenotype
-
MIM: 614310
- Polymorphism
- A/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
CEP70
PubMed Links
Gene Details
- Gene
- CEP70
- Gene Name
- centrosomal protein 70
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001288964.1 |
1891 |
Missense Mutation |
CAC,CTC |
H491L |
NP_001275893.1 |
NM_001288965.1 |
1891 |
Missense Mutation |
CAC,CTC |
H489L |
NP_001275894.1 |
NM_001288966.1 |
1891 |
Missense Mutation |
CAC,CTC |
H509L |
NP_001275895.1 |
NM_001288967.1 |
1891 |
Missense Mutation |
CAC,CTC |
H357L |
NP_001275896.1 |
NM_001320598.1 |
1891 |
Missense Mutation |
CAC,CTC |
H509L |
NP_001307527.1 |
NM_001320599.1 |
1891 |
Missense Mutation |
CAC,CTC |
H509L |
NP_001307528.1 |
NM_001320600.1 |
1891 |
Intron |
|
|
NP_001307529.1 |
NM_024491.3 |
1891 |
Missense Mutation |
CAC,CTC |
H509L |
NP_077817.2 |
XM_005247805.3 |
1891 |
Missense Mutation |
CAC,CTC |
H509L |
XP_005247862.1 |
XM_011513209.2 |
1891 |
Intron |
|
|
XP_011511511.1 |
XM_017007270.1 |
1891 |
Missense Mutation |
CAC,CTC |
H509L |
XP_016862759.1 |
XM_017007271.1 |
1891 |
Missense Mutation |
CAC,CTC |
H509L |
XP_016862760.1 |
XM_017007272.1 |
1891 |
Missense Mutation |
CAC,CTC |
H509L |
XP_016862761.1 |
XM_017007273.1 |
1891 |
Missense Mutation |
CAC,CTC |
H489L |
XP_016862762.1 |
XM_017007274.1 |
1891 |
Missense Mutation |
CAC,CTC |
H489L |
XP_016862763.1 |
XM_017007275.1 |
1891 |
Missense Mutation |
CAC,CTC |
H509L |
XP_016862764.1 |
XM_017007276.1 |
1891 |
Missense Mutation |
CAC,CTC |
H391L |
XP_016862765.1 |
XM_017007277.1 |
1891 |
Missense Mutation |
CAC,CTC |
H357L |
XP_016862766.1 |
XM_017007278.1 |
1891 |
Missense Mutation |
CAC,CTC |
H333L |
XP_016862767.1 |
XM_017007279.1 |
1891 |
Missense Mutation |
CAC,CTC |
H283L |
XP_016862768.1 |
XM_017007280.1 |
1891 |
Missense Mutation |
CAC,CTC |
H250L |
XP_016862769.1 |
XM_017007281.1 |
1891 |
Missense Mutation |
CAC,CTC |
H250L |
XP_016862770.1 |
XM_017007282.1 |
1891 |
Missense Mutation |
CAC,CTC |
H250L |
XP_016862771.1 |
XM_017007283.1 |
1891 |
Missense Mutation |
CAC,CTC |
H250L |
XP_016862772.1 |
XM_017007284.1 |
1891 |
Missense Mutation |
CAC,CTC |
H250L |
XP_016862773.1 |
View Full Product Details