Product Details
- SNP ID
-
rs184012091
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.19:12826851 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GAGCCAAGTCGGGCCGCAGGTGATA[C/T]CATCTTCGCAGTTGGCGAACCTGGA
- Phenotype
-
MIM: 612256
MIM: 609553
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
MAST1
PubMed Links
Gene Details
- Gene
- MAST1
- Gene Name
- microtubule associated serine/threonine kinase 1
There are no transcripts associated with this gene.
- Gene
- RTBDN
- Gene Name
- retbindin
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001080997.2 |
539 |
Missense Mutation |
GAT,GGT |
D129G |
NP_001074466.1 |
NM_001270440.1 |
539 |
Missense Mutation |
GAT,GGT |
D161G |
NP_001257369.1 |
NM_001270441.1 |
539 |
Missense Mutation |
GAT,GGT |
D139G |
NP_001257370.1 |
NM_001270442.1 |
539 |
Missense Mutation |
GAT,GGT |
D135G |
NP_001257371.1 |
NM_001270443.1 |
539 |
Missense Mutation |
GAT,GGT |
D129G |
NP_001257372.1 |
NM_001270444.1 |
539 |
Missense Mutation |
GAT,GGT |
D129G |
NP_001257373.1 |
NM_001270445.1 |
539 |
Missense Mutation |
GAT,GGT |
D123G |
NP_001257374.1 |
NM_031429.2 |
539 |
Missense Mutation |
GAT,GGT |
D161G |
NP_113617.1 |
XM_005260089.1 |
539 |
Missense Mutation |
GAT,GGT |
D186G |
XP_005260146.1 |
XM_005260090.3 |
539 |
Missense Mutation |
GAT,GGT |
D164G |
XP_005260147.1 |
XM_011528343.1 |
539 |
Missense Mutation |
GAT,GGT |
D181G |
XP_011526645.1 |
XM_011528344.2 |
539 |
Missense Mutation |
GAT,GGT |
D164G |
XP_011526646.1 |
XM_011528345.1 |
539 |
Missense Mutation |
GAT,GGT |
D154G |
XP_011526647.1 |
XM_017027343.1 |
539 |
Missense Mutation |
GAT,GGT |
D171G |
XP_016882832.1 |
XM_017027344.1 |
539 |
Missense Mutation |
GAT,GGT |
D155G |
XP_016882833.1 |
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