Product Details
- SNP ID
-
rs182496407
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.14:74023112 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AGACATAATGTCAGTATTAAGTTAC[A/C]TGAAGAAGCAGGATCAGGAGAAAGA
- Phenotype
-
MIM: 603162
- Polymorphism
- A/C, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
BBOF1
PubMed Links
Gene Details
- Gene
- BBOF1
- Gene Name
- basal body orientation factor 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_025057.2 |
53 |
Missense Mutation |
ATG,CTG |
M85L |
NP_079333.2 |
XM_005268092.3 |
53 |
Missense Mutation |
ATG,CTG |
M85L |
XP_005268149.1 |
XM_005268097.3 |
53 |
Missense Mutation |
ATG,CTG |
M85L |
XP_005268154.1 |
XM_005268098.4 |
53 |
Intron |
|
|
XP_005268155.1 |
XM_011537170.2 |
53 |
Missense Mutation |
ATG,CTG |
M85L |
XP_011535472.1 |
XM_011537171.2 |
53 |
Missense Mutation |
ATG,CTG |
M85L |
XP_011535473.1 |
XM_011537172.1 |
53 |
Missense Mutation |
ATG,CTG |
M85L |
XP_011535474.1 |
XM_011537174.2 |
53 |
Missense Mutation |
ATG,CTG |
M85L |
XP_011535476.1 |
XM_011537175.2 |
53 |
Missense Mutation |
ATG,CTG |
M85L |
XP_011535477.1 |
XM_011537176.2 |
53 |
Missense Mutation |
ATG,CTG |
M12L |
XP_011535478.1 |
XM_011537177.2 |
53 |
Intron |
|
|
XP_011535479.1 |
XM_011537178.2 |
53 |
UTR 5 |
|
|
XP_011535480.1 |
XM_011537179.2 |
53 |
Intron |
|
|
XP_011535481.1 |
XM_017021659.1 |
53 |
Missense Mutation |
ATG,CTG |
M85L |
XP_016877148.1 |
XM_017021660.1 |
53 |
Intron |
|
|
XP_016877149.1 |
XM_017021661.1 |
53 |
Intron |
|
|
XP_016877150.1 |
XM_017021662.1 |
53 |
Intron |
|
|
XP_016877151.1 |
XM_017021663.1 |
53 |
Missense Mutation |
ATG,CTG |
M85L |
XP_016877152.1 |
- Gene
- ENTPD5
- Gene Name
- ectonucleoside triphosphate diphosphohydrolase 5
There are no transcripts associated with this gene.
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