Product Details

SNP ID
rs148808854
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:17393717 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTACCGCGATGGTGACCACAGTGC[A/G]GTCTGCGAAGGCTGTCATCACCACC
Phenotype
MIM: 600509 MIM: 600937
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ABCC8 PubMed Links

Gene Details

Gene
ABCC8
Gene Name
ATP binding cassette subfamily C member 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000352.4 4717 Missense Mutation CGC,TGC R1530C NP_000343.2
NM_001287174.1 4717 Missense Mutation CGC,TGC R1531C NP_001274103.1
XM_011520331.2 4717 Missense Mutation CGC,TGC R1530C XP_011518633.1
XM_017018197.1 4717 Missense Mutation CGC,TGC R1553C XP_016873686.1
XM_017018198.1 4717 Missense Mutation CGC,TGC R1552C XP_016873687.1
XM_017018199.1 4717 Missense Mutation CGC,TGC R1552C XP_016873688.1
XM_017018200.1 4717 Missense Mutation CGC,TGC R1529C XP_016873689.1
XM_017018201.1 4717 Intron XP_016873690.1
XM_017018202.1 4717 Missense Mutation CGC,TGC R1052C XP_016873691.1
XM_017018203.1 4717 Intron XP_016873692.1
XM_017018204.1 4717 Missense Mutation CGC,TGC R849C XP_016873693.1
Gene
KCNJ11
Gene Name
potassium voltage-gated channel subfamily J member 11
There are no transcripts associated with this gene.

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