Product Details
- SNP ID
-
rs199702818
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.19:9811036 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AGCTCAAGGACTCTGAGCTTGGGCA[C/T]AGTGAGGCAGGAGGAGAGGATTTCA
- Phenotype
-
MIM: 609079
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
FBXL12
PubMed Links
Gene Details
- Gene
- FBXL12
- Gene Name
- F-box and leucine rich repeat protein 12
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001316936.1 |
1131 |
Missense Mutation |
ATG,GTG |
M248V |
NP_001303865.1 |
| NM_001316937.1 |
1131 |
Missense Mutation |
ATG,GTG |
M228V |
NP_001303866.1 |
| NM_001316938.1 |
1131 |
Missense Mutation |
ATG,GTG |
M228V |
NP_001303867.1 |
| NM_001316939.1 |
1131 |
Missense Mutation |
ATG,GTG |
M228V |
NP_001303868.1 |
| NM_001316940.1 |
1131 |
Missense Mutation |
ATG,GTG |
M228V |
NP_001303869.1 |
| NM_001316941.1 |
1131 |
Missense Mutation |
ATG,GTG |
M228V |
NP_001303870.1 |
| NM_001316942.1 |
1131 |
Missense Mutation |
ATG,GTG |
M228V |
NP_001303871.1 |
| NM_017703.2 |
1131 |
Missense Mutation |
ATG,GTG |
M281V |
NP_060173.1 |
| XM_006722782.3 |
1131 |
Missense Mutation |
ATG,GTG |
M239V |
XP_006722845.2 |
| XM_017026912.1 |
1131 |
Missense Mutation |
ATG,GTG |
M298V |
XP_016882401.1 |
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