Product Details

SNP ID
rs141659218
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:26114427 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCACGGGTGGCAGTGAAGAAAATTC[G/T]ATGTCACGCACCTGAAAATGTTGAA
Phenotype
MIM: 610785
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
PDIK1L PubMed Links

Gene Details

Gene
PDIK1L
Gene Name
PDLIM1 interacting kinase 1 like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001243532.1 535 Missense Mutation CGA,CTA R40L NP_001230461.1
NM_001243533.1 535 Missense Mutation CGA,CTA R40L NP_001230462.1
NM_152835.4 535 Missense Mutation CGA,CTA R40L NP_690048.1
XM_005245743.4 535 Missense Mutation CGA,CTA R40L XP_005245800.1
XM_006710381.3 535 Intron XP_006710444.1
XM_011540792.2 535 Intron XP_011539094.1

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