Product Details

SNP ID

rs1048290

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.19:10489766 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

CGTCAAAGCCCCCCACGGCATAAAG[C/G]AGACGATTGAGGACAGCCACGCCCA

Phenotype

MIM: 606016

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

KEAP1 PubMed Links

Gene Details

Gene

KEAP1

Gene Name

kelch like ECH associated protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012289.3	1737	Silent Mutation	CTC,CTG	L471L	NP_036421.2
NM_203500.1	1737	Silent Mutation	CTC,CTG	L471L	NP_987096.1
XM_005260173.1	1737	Silent Mutation	CTC,CTG	L471L	XP_005260230.1
XM_005260174.1	1737	Silent Mutation	CTC,CTG	L471L	XP_005260231.1
XM_011528452.1	1737	Silent Mutation	CTC,CTG	L471L	XP_011526754.1

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