Product Details

SNP ID
rs144919029
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:57760762 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAGGGTCTTGCTGTCACCACTAAG[C/T]GAATCCTGCAGCAGGTAGGTGAGCT
Phenotype
MIM: 602703 MIM: 604535
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KATNB1 PubMed Links

Gene Details

Gene
KATNB1
Gene Name
katanin regulatory subunit B1
There are no transcripts associated with this gene.

Gene
KIFC3
Gene Name
kinesin family member C3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130099.1 2949 Silent Mutation TCA,TCG S593S NP_001123571.1
NM_001130100.1 2949 Silent Mutation TCA,TCG S732S NP_001123572.1
NM_001318710.1 2949 Silent Mutation TCA,TCG S754S NP_001305639.1
NM_001318711.1 2949 Silent Mutation TCA,TCG S674S NP_001305640.1
NM_001318712.1 2949 Silent Mutation TCA,TCG S630S NP_001305641.1
NM_001318713.1 2949 Silent Mutation TCA,TCG S590S NP_001305642.1
NM_001318714.1 2949 Silent Mutation TCA,TCG S593S NP_001305643.1
NM_001318715.1 2949 Silent Mutation TCA,TCG S593S NP_001305644.1
NM_005550.3 2949 Silent Mutation TCA,TCG S732S NP_005541.3
XM_005255937.1 2949 Silent Mutation TCA,TCG S895S XP_005255994.1
XM_005255944.1 2949 Silent Mutation TCA,TCG S674S XP_005256001.1
XM_006721188.1 2949 Silent Mutation TCA,TCG S921S XP_006721251.1
XM_011523075.1 2949 Silent Mutation TCA,TCG S781S XP_011521377.1
XM_011523076.1 2949 Silent Mutation TCA,TCG S781S XP_011521378.1
XM_011523077.1 2949 Silent Mutation TCA,TCG S760S XP_011521379.1
XM_011523078.1 2949 Silent Mutation TCA,TCG S593S XP_011521380.1
XM_011523079.1 2949 Silent Mutation TCA,TCG S593S XP_011521381.1
XM_017023219.1 2949 Silent Mutation TCA,TCG S978S XP_016878708.1
XM_017023220.1 2949 Silent Mutation TCA,TCG S956S XP_016878709.1
XM_017023221.1 2949 Silent Mutation TCA,TCG S895S XP_016878710.1
XM_017023222.1 2949 Silent Mutation TCA,TCG S811S XP_016878711.1
XM_017023223.1 2949 Silent Mutation TCA,TCG S754S XP_016878712.1
XM_017023224.1 2949 Silent Mutation TCA,TCG S811S XP_016878713.1
XM_017023225.1 2949 Silent Mutation TCA,TCG S675S XP_016878714.1
XM_017023226.1 2949 Silent Mutation TCA,TCG S674S XP_016878715.1
XM_017023227.1 2949 Silent Mutation TCA,TCG S674S XP_016878716.1

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