Product Details
- SNP ID
-
rs114048423
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:77323355 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AGAGGGGCTTGGCAATCTTCAGGAA[C/T]TGATGCTAGAAAGGAGAAAAATAGC
- Phenotype
-
MIM: 602590
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
PAK1
PubMed Links
Gene Details
- Gene
- PAK1
- Gene Name
- p21 (RAC1) activated kinase 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001128620.1 |
1806 |
Missense Mutation |
ATT,GTT |
I536V |
NP_001122092.1 |
NM_002576.4 |
1806 |
Silent Mutation |
CAA,CAG |
Q519Q |
NP_002567.3 |
XM_011545080.2 |
1806 |
Missense Mutation |
ATT,GTT |
I536V |
XP_011543382.1 |
XM_011545081.2 |
1806 |
Missense Mutation |
ATT,GTT |
I536V |
XP_011543383.1 |
XM_011545082.2 |
1806 |
Missense Mutation |
ATT,GTT |
I536V |
XP_011543384.1 |
XM_011545083.2 |
1806 |
Missense Mutation |
ATT,GTT |
I536V |
XP_011543385.1 |
XM_011545084.2 |
1806 |
Missense Mutation |
ATT,GTT |
I536V |
XP_011543386.1 |
XM_017017846.1 |
1806 |
Silent Mutation |
CAA,CAG |
Q519Q |
XP_016873335.1 |
XM_017017847.1 |
1806 |
Silent Mutation |
CAA,CAG |
Q519Q |
XP_016873336.1 |
XM_017017848.1 |
1806 |
Silent Mutation |
CAA,CAG |
Q519Q |
XP_016873337.1 |
XM_017017849.1 |
1806 |
Silent Mutation |
CAA,CAG |
Q519Q |
XP_016873338.1 |
XM_017017850.1 |
1806 |
Silent Mutation |
CAA,CAG |
Q519Q |
XP_016873339.1 |
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