Product Details
- SNP ID
-
rs143604095
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:105363380 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AAAGTCATCGCGAGCTGTGAAGCGC[C/T]GCCCAGACAGCTGCTTCCTGCAGGC
- Phenotype
-
MIM: 602633
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
C2orf49
PubMed Links
Gene Details
- Gene
- C2orf49
- Gene Name
- chromosome 2 open reading frame 49
There are no transcripts associated with this gene.
- Gene
- FHL2
- Gene Name
- four and a half LIM domains 2
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001039492.2 |
817 |
Missense Mutation |
CAG,CGG |
Q198R |
NP_001034581.1 |
| NM_001318894.1 |
817 |
Missense Mutation |
CAG,CGG |
Q198R |
NP_001305823.1 |
| NM_001318895.1 |
817 |
Missense Mutation |
CAG,CGG |
Q198R |
NP_001305824.1 |
| NM_001318896.1 |
817 |
Missense Mutation |
CAG,CGG |
Q198R |
NP_001305825.1 |
| NM_001318897.1 |
817 |
Missense Mutation |
CAG,CGG |
Q84R |
NP_001305826.1 |
| NM_001318898.1 |
817 |
Missense Mutation |
CAG,CGG |
Q84R |
NP_001305827.1 |
| NM_001318899.1 |
817 |
Missense Mutation |
CAG,CGG |
Q90R |
NP_001305828.1 |
| NM_001450.3 |
817 |
Missense Mutation |
CAG,CGG |
Q198R |
NP_001441.4 |
| NM_201555.1 |
817 |
Missense Mutation |
CAG,CGG |
Q198R |
NP_963849.1 |
| NM_201557.3 |
817 |
Missense Mutation |
CAG,CGG |
Q198R |
NP_963851.2 |
| XM_011510798.2 |
817 |
Missense Mutation |
CAG,CGG |
Q198R |
XP_011509100.1 |
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