Product Details

SNP ID
rs17852852
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:72287305 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCATCCTTGGGCCGCTTTAGCTGG[A/G]CCTTGAGCCTCTTCATGCCAATTTG
Phenotype
MIM: 612681
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CELF6 PubMed Links

Gene Details

Gene
CELF6
Gene Name
CUGBP, Elav-like family member 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001172684.1 1397 Missense Mutation GCC,GTC A442V NP_001166155.1
NM_001172685.1 1397 Missense Mutation GCC,GTC A332V NP_001166156.1
NM_052840.4 1397 Missense Mutation GCC,GTC A469V NP_443072.3

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