Product Details

SNP ID

rs114613745

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:17386986 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGGCCATGGGCACGCTGCGCTTG[C/T]GCAGGGGCCCGCGGGCTGAGGCGAG

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	1303	Missense Mutation	CAC,CGC	H369R	NP_000516.3
NM_001166290.1	1303	Missense Mutation	CAC,CGC	H282R	NP_001159762.1
XM_006718226.3	1303	Missense Mutation	CAC,CGC	H282R	XP_006718289.1
XM_017017680.1	1303	Missense Mutation	CAC,CGC	H282R	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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