Product Details
- SNP ID
-
rs2234051
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.6:35118495 on Build GRCh38
- Set Membership
-
HapMap
- Context Sequence [VIC/FAM]
- ACAGCATTTGAGAAACAAATGGATC[C/T]GCTGATCTGTGAGCAGGAAAAGACA
- Phenotype
-
MIM: 186982
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
TCP11
PubMed Links
Gene Details
- Gene
- TCP11
- Gene Name
- t-complex 11
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001093728.2 |
1600 |
Missense Mutation |
CAG,CGG |
Q442R |
NP_001087197.1 |
NM_001261817.1 |
1600 |
Missense Mutation |
CAG,CGG |
Q437R |
NP_001248746.1 |
NM_001261818.1 |
1600 |
Missense Mutation |
CAG,CGG |
Q396R |
NP_001248747.1 |
NM_001261819.1 |
1600 |
Missense Mutation |
CAG,CGG |
Q391R |
NP_001248748.1 |
NM_001261820.1 |
1600 |
Missense Mutation |
CAG,CGG |
Q366R |
NP_001248749.1 |
NM_001261821.1 |
1600 |
Missense Mutation |
CAG,CGG |
Q366R |
NP_001248750.1 |
NM_018679.5 |
1600 |
Missense Mutation |
CAG,CGG |
Q367R |
NP_061149.1 |
XM_005249339.2 |
1600 |
Missense Mutation |
CAG,CGG |
Q288R |
XP_005249396.1 |
XM_011514830.1 |
1600 |
Silent Mutation |
GCA,GCG |
A551A |
XP_011513132.1 |
XM_011514831.1 |
1600 |
Missense Mutation |
CAG,CGG |
Q288R |
XP_011513133.1 |
XM_011514832.1 |
1600 |
Missense Mutation |
CAG,CGG |
Q288R |
XP_011513134.1 |
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