Product Details

SNP ID

rs72559714

Assay Type

DME

NCBI dbSNP Submissions

NA

Location

Chr.11:17394337 on Build GRCh38

Set Membership

DME Validated Inventoried

Context Sequence [VIC/FAM]

CTGGTCTTCCTCACGAAGGCCCGGG[C/T]CAGGCAGAACAGCTGCCTCTGTCCC

Phenotype

MIM: 600509 MIM: 600937

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000352.4	4603	Missense Mutation	ACC,GCC	T1492A	NP_000343.2
NM_001287174.1	4603	Missense Mutation	ACC,GCC	T1493A	NP_001274103.1
XM_011520331.2	4603	Missense Mutation	ACC,GCC	T1492A	XP_011518633.1
XM_017018197.1	4603	Missense Mutation	ACC,GCC	T1515A	XP_016873686.1
XM_017018198.1	4603	Missense Mutation	ACC,GCC	T1514A	XP_016873687.1
XM_017018199.1	4603	Missense Mutation	ACC,GCC	T1514A	XP_016873688.1
XM_017018200.1	4603	Missense Mutation	ACC,GCC	T1491A	XP_016873689.1
XM_017018201.1	4603	Missense Mutation	GAC,GGC	D1480G	XP_016873690.1
XM_017018202.1	4603	Missense Mutation	ACC,GCC	T1014A	XP_016873691.1
XM_017018203.1	4603	Intron			XP_016873692.1
XM_017018204.1	4603	Missense Mutation	ACC,GCC	T811A	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