Product Details
- SNP ID
-
rs143218392
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.20:49117827 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TAGTCCAGTTGCTCAGAGGGTCTCG[C/T]GAGAGGTCCATGGGGTACGTGGCCT
- Phenotype
-
MIM: 601716
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
STAU1
PubMed Links
Gene Details
- Gene
- STAU1
- Gene Name
- staufen double-stranded RNA binding protein 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001037328.2 |
1527 |
Missense Mutation |
ACG,GCG |
T412A |
NP_001032405.1 |
NM_001319134.1 |
1527 |
Missense Mutation |
ACG,GCG |
T412A |
NP_001306063.1 |
NM_001319135.1 |
1527 |
Missense Mutation |
ACG,GCG |
T487A |
NP_001306064.1 |
NM_001322927.1 |
1527 |
Missense Mutation |
ACG,GCG |
T412A |
NP_001309856.1 |
NM_001322928.1 |
1527 |
Missense Mutation |
ACG,GCG |
T452A |
NP_001309857.1 |
NM_001322929.1 |
1527 |
Missense Mutation |
ACG,GCG |
T487A |
NP_001309858.1 |
NM_001322930.1 |
1527 |
Missense Mutation |
ACG,GCG |
T487A |
NP_001309859.1 |
NM_001322931.1 |
1527 |
Missense Mutation |
ACG,GCG |
T446A |
NP_001309860.1 |
NM_001322932.1 |
1527 |
Missense Mutation |
ACG,GCG |
T493A |
NP_001309861.1 |
NM_001322933.1 |
1527 |
Missense Mutation |
ACG,GCG |
T493A |
NP_001309862.1 |
NM_004602.3 |
1527 |
Missense Mutation |
ACG,GCG |
T406A |
NP_004593.2 |
NM_017452.3 |
1527 |
Missense Mutation |
ACG,GCG |
T406A |
NP_059346.2 |
NM_017453.3 |
1527 |
Missense Mutation |
ACG,GCG |
T487A |
NP_059347.2 |
NM_017454.3 |
1527 |
Missense Mutation |
ACG,GCG |
T406A |
NP_059348.2 |
XM_005260527.1 |
1527 |
Missense Mutation |
ACG,GCG |
T412A |
XP_005260584.1 |
XM_006723865.1 |
1527 |
Missense Mutation |
ACG,GCG |
T493A |
XP_006723928.1 |
XM_011529015.1 |
1527 |
Missense Mutation |
ACG,GCG |
T452A |
XP_011527317.1 |
XM_017028028.1 |
1527 |
Missense Mutation |
ACG,GCG |
T446A |
XP_016883517.1 |
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