Product Details
- SNP ID
-
rs139698018
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
6
- Location
-
Chr.1:155264741 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCACTGCCAAAGTCTACCACCCGCA[C/T]AGCTGTGCTCTTCACACTGCGCTCA
- Phenotype
-
MIM: 602989
MIM: 606913
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CLK2
PubMed Links
Gene Details
- Gene
- CLK2
- Gene Name
- CDC like kinase 2
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001294338.1 |
1176 |
Missense Mutation |
ATG,GTG |
M323V |
NP_001281267.1 |
| NM_001294339.1 |
1176 |
Missense Mutation |
ATG,GTG |
M95V |
NP_001281268.1 |
| NM_003993.3 |
1176 |
Missense Mutation |
ATG,GTG |
M322V |
NP_003984.2 |
| XM_005244878.1 |
1176 |
Missense Mutation |
ATG,GTG |
M321V |
XP_005244935.1 |
| XM_011509143.1 |
1176 |
Missense Mutation |
ATG,GTG |
M322V |
XP_011507445.1 |
| XM_011509144.1 |
1176 |
UTR 3 |
|
|
XP_011507446.1 |
| XM_011509147.2 |
1176 |
Missense Mutation |
ATG,GTG |
M76V |
XP_011507449.1 |
| XM_017000241.1 |
1176 |
Missense Mutation |
ATG,GTG |
M76V |
XP_016855730.1 |
| XM_017000242.1 |
1176 |
Missense Mutation |
ATG,GTG |
M76V |
XP_016855731.1 |
| XM_017000243.1 |
1176 |
Missense Mutation |
ATG,GTG |
M76V |
XP_016855732.1 |
| XM_017000244.1 |
1176 |
Missense Mutation |
ATG,GTG |
M76V |
XP_016855733.1 |
- Gene
- FAM189B
- Gene Name
- family with sequence similarity 189 member B
There are no transcripts associated with this gene.
- Gene
- SCAMP3
- Gene Name
- secretory carrier membrane protein 3
There are no transcripts associated with this gene.
View Full Product Details