Product Details

SNP ID
rs150678561
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:34146848 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGCCAGTTTAAACCAACTATAACA[C/T]ATCTGAAATGACATTTTGTTACAAA
Phenotype
MIM: 616235
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KATNBL1 PubMed Links

Gene Details

Gene
KATNBL1
Gene Name
katanin regulatory subunit B1 like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024713.2 861 Missense Mutation TAT,TGT Y234C NP_078989.1
XM_005254668.3 861 Missense Mutation TAT,TGT Y234C XP_005254725.1
XM_017022571.1 861 Missense Mutation TAT,TGT Y234C XP_016878060.1
XM_017022572.1 861 Missense Mutation TAT,TGT Y234C XP_016878061.1
XM_017022573.1 861 Missense Mutation TAT,TGT Y234C XP_016878062.1
XM_017022574.1 861 Missense Mutation TAT,TGT Y234C XP_016878063.1
XM_017022575.1 861 Intron XP_016878064.1

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