Product Details

SNP ID

rs200402268

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.11:17393012 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGTCACTTGTCTGCACGGACGAA[A/G]GAGGCGAAGACGCTGTCCTTCCGGC

Phenotype

MIM: 600509 MIM: 600937

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

ABCC8 PubMed Links

Additional Information

For this assay, SNP(s) [rs8192690] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	4854	Silent Mutation	TCC,TCT	S1575S	NP_000343.2
NM_001287174.1	4854	Silent Mutation	TCC,TCT	S1576S	NP_001274103.1
XM_011520331.2	4854	Silent Mutation	TCC,TCT	S1575S	XP_011518633.1
XM_017018197.1	4854	Silent Mutation	TCC,TCT	S1598S	XP_016873686.1
XM_017018198.1	4854	Silent Mutation	TCC,TCT	S1597S	XP_016873687.1
XM_017018199.1	4854	Silent Mutation	TCC,TCT	S1597S	XP_016873688.1
XM_017018200.1	4854	Silent Mutation	TCC,TCT	S1574S	XP_016873689.1
XM_017018201.1	4854	Intron			XP_016873690.1
XM_017018202.1	4854	Silent Mutation	TCC,TCT	S1097S	XP_016873691.1
XM_017018203.1	4854	Intron			XP_016873692.1
XM_017018204.1	4854	Silent Mutation	TCC,TCT	S894S	XP_016873693.1

Gene

KCNJ11

Gene Name

potassium voltage-gated channel subfamily J member 11

There are no transcripts associated with this gene.

View Full Product Details