Product Details

SNP ID
rs190036505
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:47571628 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGACTTTTGTCATTTCAAAGACAT[C/G]ATGTATGGGGATTAGAAAGAACTCA
Phenotype
MIM: 601074 MIM: 603846 MIM: 609538
Polymorphism
C/G, 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_001318716.1 715 Intron NP_001305645.1
NM_001318717.1 715 Intron NP_001305646.1
NM_001318718.1 715 Intron NP_001305647.1
NM_001318719.1 715 Intron NP_001305648.1
NM_001318720.1 715 Intron NP_001305649.1
NM_001318721.1 715 Intron NP_001305650.1
NM_001318722.1 715 Intron NP_001305651.1
NM_001318723.1 715 Intron NP_001305652.1
NM_001318724.1 715 Intron NP_001305653.1
NM_001318725.1 715 Intron NP_001305654.1
NM_016506.6 715 Intron NP_057590.3
NM_018095.5 715 Intron NP_060565.4
XM_017018009.1 715 Intron 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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001143984.1 715 UTR 3 NP_001137456.1

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