Product Details

SNP ID

rs201027786

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:57760377 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCACCCTCTCAGCAAACTTGAGGG[A/T]ATAGAGCGTCTCGCTAGTGTTCTTC

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	3025	Missense Mutation	ACC,TCC	T619S	NP_001123571.1
NM_001130100.1	3025	Missense Mutation	ACC,TCC	T758S	NP_001123572.1
NM_001318710.1	3025	Missense Mutation	ACC,TCC	T780S	NP_001305639.1
NM_001318711.1	3025	Missense Mutation	ACC,TCC	T700S	NP_001305640.1
NM_001318712.1	3025	Missense Mutation	ACC,TCC	T656S	NP_001305641.1
NM_001318713.1	3025	Missense Mutation	ACC,TCC	T616S	NP_001305642.1
NM_001318714.1	3025	Missense Mutation	ACC,TCC	T619S	NP_001305643.1
NM_001318715.1	3025	Missense Mutation	ACC,TCC	T619S	NP_001305644.1
NM_005550.3	3025	Missense Mutation	ACC,TCC	T758S	NP_005541.3
XM_005255937.1	3025	Missense Mutation	ACC,TCC	T921S	XP_005255994.1
XM_005255944.1	3025	Missense Mutation	ACC,TCC	T700S	XP_005256001.1
XM_006721188.1	3025	Missense Mutation	ACC,TCC	T947S	XP_006721251.1
XM_011523075.1	3025	Missense Mutation	ACC,TCC	T807S	XP_011521377.1
XM_011523076.1	3025	Missense Mutation	ACC,TCC	T807S	XP_011521378.1
XM_011523077.1	3025	Missense Mutation	ACC,TCC	T786S	XP_011521379.1
XM_011523078.1	3025	Missense Mutation	ACC,TCC	T619S	XP_011521380.1
XM_011523079.1	3025	Missense Mutation	ACC,TCC	T619S	XP_011521381.1
XM_017023219.1	3025	Missense Mutation	ACC,TCC	T1004S	XP_016878708.1
XM_017023220.1	3025	Missense Mutation	ACC,TCC	T982S	XP_016878709.1
XM_017023221.1	3025	Missense Mutation	ACC,TCC	T921S	XP_016878710.1
XM_017023222.1	3025	Missense Mutation	ACC,TCC	T837S	XP_016878711.1
XM_017023223.1	3025	Missense Mutation	ACC,TCC	T780S	XP_016878712.1
XM_017023224.1	3025	Missense Mutation	ACC,TCC	T837S	XP_016878713.1
XM_017023225.1	3025	Missense Mutation	ACC,TCC	T701S	XP_016878714.1
XM_017023226.1	3025	Missense Mutation	ACC,TCC	T700S	XP_016878715.1
XM_017023227.1	3025	Missense Mutation	ACC,TCC	T700S	XP_016878716.1

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