Product Details

SNP ID
rs147262660
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:65170596 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGGAGTCTAGACAGGAGCCGAAAC[C/G]TCGAAGAGGCGGCGGCCGCGGAGCA
Phenotype
MIM: 607844
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
LEMD3 PubMed Links

Gene Details

Gene
LEMD3
Gene Name
LEM domain containing 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001167614.1 1026 Missense Mutation CTC,GTC L334V NP_001161086.1
NM_014319.4 1026 Missense Mutation CTC,GTC L334V NP_055134.2

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