Product Details

SNP ID
rs41282930
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:17386938 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATGGCTCAGGACAGGGAATCTGGA[C/G]AGATGCTGAACTTGGGCTTGGCCTT
Phenotype
MIM: 600509 MIM: 600937 MIM: 613714
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ABCC8 PubMed Links

Gene Details

Gene
ABCC8
Gene Name
ATP binding cassette subfamily C member 8
There are no transcripts associated with this gene.

Gene
KCNJ11
Gene Name
potassium voltage-gated channel subfamily J member 11
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000525.3 1351 Missense Mutation TCT,TGT S385C NP_000516.3
NM_001166290.1 1351 Missense Mutation TCT,TGT S298C NP_001159762.1
XM_006718226.3 1351 Missense Mutation TCT,TGT S298C XP_006718289.1
XM_017017680.1 1351 Missense Mutation TCT,TGT S298C XP_016873169.1
Gene
NCR3LG1
Gene Name
natural killer cell cytotoxicity receptor 3 ligand 1
There are no transcripts associated with this gene.

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