Product Details

SNP ID
rs148593495
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:34142345 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTAGTAGATGAAATCTCTCAATG[C/T]AACTGTAATAAATAAGCATCTACAT
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 1069 Silent Mutation TTA,TTG L303L NP_078989.1
XM_005254668.3 1069 Intron XP_005254725.1
XM_017022571.1 1069 Silent Mutation TTA,TTG L303L XP_016878060.1
XM_017022572.1 1069 Silent Mutation TTA,TTG L303L XP_016878061.1
XM_017022573.1 1069 Silent Mutation TTA,TTG L303L XP_016878062.1
XM_017022574.1 1069 Silent Mutation TTA,TTG L303L XP_016878063.1
XM_017022575.1 1069 Silent Mutation TTA,TTG L226L XP_016878064.1

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