Product Details

SNP ID
rs34998154
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.15:34145451 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCAAAGTAAGATGGTTTTCCTGTT[C/T]CCATAATCCACTTAATTGTTGTTTT
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_024713.2 989 Missense Mutation AAA,GAA K277E NP_078989.1
XM_005254668.3 989 Missense Mutation AAA,GAA K277E XP_005254725.1
XM_017022571.1 989 Missense Mutation AAA,GAA K277E XP_016878060.1
XM_017022572.1 989 Missense Mutation AAA,GAA K277E XP_016878061.1
XM_017022573.1 989 Missense Mutation AAA,GAA K277E XP_016878062.1
XM_017022574.1 989 Missense Mutation AAA,GAA K277E XP_016878063.1
XM_017022575.1 989 Missense Mutation AAA,GAA K200E XP_016878064.1

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