Product Details

SNP ID

rs193929358

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:17387091 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGTGTGGGCACTTTGACGGTGTTG[T/C]CAAACTTGGAGTAGTCCACAGAGTA

Phenotype

MIM: 600509 MIM: 600937 MIM: 613714

Polymorphism

T/C, 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	1198	Missense Mutation	GAC,GGC	D334G	NP_000516.3
NM_001166290.1	1198	Missense Mutation	GAC,GGC	D247G	NP_001159762.1
XM_006718226.3	1198	Missense Mutation	GAC,GGC	D247G	XP_006718289.1
XM_017017680.1	1198	Missense Mutation	GAC,GGC	D247G	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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