Product Details

SNP ID
rs3740655
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:47569801 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TCCAGAAGGGAGTCCAATTTGCTCT[C/T]AAGTACCAGTCGCTGGGCCAGTGTG
Phenotype
MIM: 601074 MIM: 603846 MIM: 609538
Polymorphism
C/T, Transition 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
There are no transcripts associated with this gene.

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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001143984.1 550 Intron NP_001137456.1
NM_175732.2 550 Silent Mutation CTC,CTT L119L NP_783859.1

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