Product Details

SNP ID
rs200538549
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:34146813 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATAGTTCTGACCACCACCTTTTAA[C/T]GACTGCTTGAAGCCAGTTTAAACCA
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_024713.2 896 Missense Mutation ATT,GTT I246V NP_078989.1
XM_005254668.3 896 Missense Mutation ATT,GTT I246V XP_005254725.1
XM_017022571.1 896 Missense Mutation ATT,GTT I246V XP_016878060.1
XM_017022572.1 896 Missense Mutation ATT,GTT I246V XP_016878061.1
XM_017022573.1 896 Missense Mutation ATT,GTT I246V XP_016878062.1
XM_017022574.1 896 Missense Mutation ATT,GTT I246V XP_016878063.1
XM_017022575.1 896 Intron XP_016878064.1

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