Product Details

SNP ID
rs192935606
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:65077212 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCCGCGCTCTTCATCTGCGACGGC[G/T]AGCGCGAGCTGGCGGCCGAACTGGC
Phenotype
MIM: 613727
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
KBTBD13 PubMed Links

Gene Details

Gene
KBTBD13
Gene Name
kelch repeat and BTB domain containing 13
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001101362.2 397 Nonsense Mutation GAG,TAG E133* NP_001094832.1
Gene
RASL12
Gene Name
RAS like family 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001307930.1 397 Intron NP_001294859.1
NM_016563.3 397 Intron NP_057647.1
XM_005254434.4 397 Intron XP_005254491.1
XM_011521660.2 397 Intron XP_011519962.1
XM_017022296.1 397 Intron XP_016877785.1

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