Product Details

SNP ID
rs201592457
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:32869676 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCAGAGTACCTCTTAGCAGGGATG[C/T]TGGCTGCCATTTTCCACTCATTTTT
Phenotype
Polymorphism
C/T, 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 2200 Missense Mutation AAC,AGC N514S NP_056298.2
XM_005249696.2 2200 Missense Mutation AAC,AGC N514S XP_005249753.1
XM_005249697.2 2200 Missense Mutation AAC,AGC N456S XP_005249754.1
XM_011515256.2 2200 Missense Mutation AAC,AGC N514S XP_011513558.1
XM_011515257.2 2200 Missense Mutation AAC,AGC N456S XP_011513559.1

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