Product Details

SNP ID

rs752730

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:32869570 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GTTCCAGGTCATATTGGTAGGTGAC[A/G]TATTTAGCTCGCTCATTTAAGTGGG

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KBTBD2 PubMed Links

Gene Details

Gene

KBTBD2

Gene Name

kelch repeat and BTB domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015483.2	2306	Silent Mutation	TAC,TAT	Y549Y	NP_056298.2
XM_005249696.2	2306	Silent Mutation	TAC,TAT	Y549Y	XP_005249753.1
XM_005249697.2	2306	Silent Mutation	TAC,TAT	Y491Y	XP_005249754.1
XM_011515256.2	2306	Silent Mutation	TAC,TAT	Y549Y	XP_011513558.1
XM_011515257.2	2306	Silent Mutation	TAC,TAT	Y491Y	XP_011513559.1

View Full Product Details