Product Details

SNP ID
rs150932878
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:57759820 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCCGTGCCGAGGGCTGTGGCGTC[A/T]GACAAGCCGGCTCCCACTGTGAGCA
Phenotype
MIM: 602703 MIM: 604535
Polymorphism
A/T, Transversion 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 3137 Missense Mutation CAG,CTG Q656L NP_001123571.1
NM_001130100.1 3137 Missense Mutation CAG,CTG Q795L NP_001123572.1
NM_001318710.1 3137 Missense Mutation CAG,CTG Q817L NP_001305639.1
NM_001318711.1 3137 Missense Mutation CAG,CTG Q737L NP_001305640.1
NM_001318712.1 3137 Missense Mutation CAG,CTG Q693L NP_001305641.1
NM_001318713.1 3137 Missense Mutation CAG,CTG Q653L NP_001305642.1
NM_001318714.1 3137 Missense Mutation CAG,CTG Q656L NP_001305643.1
NM_001318715.1 3137 Missense Mutation CAG,CTG Q656L NP_001305644.1
NM_005550.3 3137 Missense Mutation CAG,CTG Q795L NP_005541.3
XM_005255937.1 3137 Missense Mutation CAG,CTG Q958L XP_005255994.1
XM_005255944.1 3137 Missense Mutation CAG,CTG Q737L XP_005256001.1
XM_006721188.1 3137 Missense Mutation CAG,CTG Q984L XP_006721251.1
XM_011523075.1 3137 Missense Mutation CAG,CTG Q844L XP_011521377.1
XM_011523076.1 3137 Missense Mutation CAG,CTG Q844L XP_011521378.1
XM_011523077.1 3137 Missense Mutation CAG,CTG Q823L XP_011521379.1
XM_011523078.1 3137 Missense Mutation CAG,CTG Q656L XP_011521380.1
XM_011523079.1 3137 Missense Mutation CAG,CTG Q656L XP_011521381.1
XM_017023219.1 3137 Missense Mutation CAG,CTG Q1041L XP_016878708.1
XM_017023220.1 3137 Missense Mutation CAG,CTG Q1019L XP_016878709.1
XM_017023221.1 3137 Missense Mutation CAG,CTG Q958L XP_016878710.1
XM_017023222.1 3137 Missense Mutation CAG,CTG Q874L XP_016878711.1
XM_017023223.1 3137 Missense Mutation CAG,CTG Q817L XP_016878712.1
XM_017023224.1 3137 Missense Mutation CAG,CTG Q874L XP_016878713.1
XM_017023225.1 3137 Missense Mutation CAG,CTG Q738L XP_016878714.1
XM_017023226.1 3137 Missense Mutation CAG,CTG Q737L XP_016878715.1
XM_017023227.1 3137 Missense Mutation CAG,CTG Q737L XP_016878716.1

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