Product Details

SNP ID: rs5215
Assay Type: Validated
NCBI dbSNP Submissions: NA
Location: Chr.11:17387083 on Build GRCh38
Set Membership: HapMap Validated
Context Sequence [VIC/FAM]: GTGCAGAGTGGTGTGGGCACTTTGA[C/T]GGTGTTGCCAAACTTGGAGTAGTCC
Phenotype: MIM: 600509 MIM: 600937 MIM: 613714
Polymorphism: C/T, Transition 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	1206	Missense Mutation	ATC,GTC	I337V	NP_000516.3
NM_001166290.1	1206	Missense Mutation	ATC,GTC	I250V	NP_001159762.1
XM_006718226.3	1206	Missense Mutation	ATC,GTC	I250V	XP_006718289.1
XM_017017680.1	1206	Missense Mutation	ATC,GTC	I250V	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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