Product Details
- SNP ID
-
rs139967520
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:47572942 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCTCCCCACAGCCTTAGGCCAACAC[A/C]AACTGCAAATTGGTAAGCAGCACCT
- Phenotype
-
MIM: 601074
MIM: 603846
MIM: 609538
- Polymorphism
- A/C, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
CELF1
PubMed Links
Gene Details
- Gene
- CELF1
- Gene Name
- CUGBP, Elav-like family member 1
There are no transcripts associated with this gene.
- Gene
- KBTBD4
- Gene Name
- kelch repeat and BTB domain containing 4
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001318716.1 |
2112 |
Missense Mutation |
TTG,TTT |
L564F |
NP_001305645.1 |
| NM_001318717.1 |
2112 |
Missense Mutation |
TTG,TTT |
L554F |
NP_001305646.1 |
| NM_001318718.1 |
2112 |
Missense Mutation |
TTG,TTT |
L540F |
NP_001305647.1 |
| NM_001318719.1 |
2112 |
Missense Mutation |
TTG,TTT |
L540F |
NP_001305648.1 |
| NM_001318720.1 |
2112 |
Missense Mutation |
TTG,TTT |
L538F |
NP_001305649.1 |
| NM_001318721.1 |
2112 |
Missense Mutation |
TTG,TTT |
L515F |
NP_001305650.1 |
| NM_001318722.1 |
2112 |
Missense Mutation |
TTG,TTT |
L515F |
NP_001305651.1 |
| NM_001318723.1 |
2112 |
Missense Mutation |
TTG,TTT |
L515F |
NP_001305652.1 |
| NM_001318724.1 |
2112 |
Missense Mutation |
TTG,TTT |
L515F |
NP_001305653.1 |
| NM_001318725.1 |
2112 |
Missense Mutation |
TTG,TTT |
L515F |
NP_001305654.1 |
| NM_016506.6 |
2112 |
Missense Mutation |
TTG,TTT |
L515F |
NP_057590.3 |
| NM_018095.5 |
2112 |
Missense Mutation |
TTG,TTT |
L531F |
NP_060565.4 |
| XM_017018009.1 |
2112 |
Missense Mutation |
TTG,TTT |
L547F |
XP_016873498.1 |
- Gene
- NDUFS3
- Gene Name
- NADH:ubiquinone oxidoreductase core subunit S3
There are no transcripts associated with this gene.
- Gene
- PTPMT1
- Gene Name
- protein tyrosine phosphatase, mitochondrial 1
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