Product Details

SNP ID

rs60955659

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:57758221 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCAACTTTTTCAGACCATACTTGT[A/G]TAAAAAGGCTTCTTTTATTTTAATA

Phenotype

MIM: 602703 MIM: 604535

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KATNB1 PubMed Links

Gene Details

Gene

KATNB1

Gene Name

katanin regulatory subunit B1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005886.2	3918	Intron			NP_005877.2
XM_005255772.4	3918	Intron			XP_005255829.1
XM_006721121.3	3918	Intron			XP_006721184.1
XM_006721122.2	3918	Intron			XP_006721185.1
XM_006721123.3	3918	Intron			XP_006721186.1
XM_011522810.2	3918	Intron			XP_011521112.1
XM_017022860.1	3918	Intron			XP_016878349.1
XM_017022861.1	3918	Intron			XP_016878350.1
XM_017022862.1	3918	Intron			XP_016878351.1
XM_017022863.1	3918	Intron			XP_016878352.1
XM_017022864.1	3918	Intron			XP_016878353.1

Gene

KIFC3

Gene Name

kinesin family member C3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130099.1	3918	UTR 3			NP_001123571.1
NM_001130100.1	3918	UTR 3			NP_001123572.1
NM_001318710.1	3918	UTR 3			NP_001305639.1
NM_001318711.1	3918	UTR 3			NP_001305640.1
NM_001318712.1	3918	UTR 3			NP_001305641.1
NM_001318713.1	3918	UTR 3			NP_001305642.1
NM_001318714.1	3918	UTR 3			NP_001305643.1
NM_001318715.1	3918	UTR 3			NP_001305644.1
NM_005550.3	3918	UTR 3			NP_005541.3
XM_005255937.1	3918	UTR 3			XP_005255994.1
XM_005255944.1	3918	UTR 3			XP_005256001.1
XM_006721188.1	3918	UTR 3			XP_006721251.1
XM_011523075.1	3918	UTR 3			XP_011521377.1
XM_011523076.1	3918	UTR 3			XP_011521378.1
XM_011523077.1	3918	UTR 3			XP_011521379.1
XM_011523078.1	3918	UTR 3			XP_011521380.1
XM_011523079.1	3918	UTR 3			XP_011521381.1
XM_017023219.1	3918	UTR 3			XP_016878708.1
XM_017023220.1	3918	UTR 3			XP_016878709.1
XM_017023221.1	3918	UTR 3			XP_016878710.1
XM_017023222.1	3918	UTR 3			XP_016878711.1
XM_017023223.1	3918	UTR 3			XP_016878712.1
XM_017023224.1	3918	UTR 3			XP_016878713.1
XM_017023225.1	3918	UTR 3			XP_016878714.1
XM_017023226.1	3918	UTR 3			XP_016878715.1
XM_017023227.1	3918	UTR 3			XP_016878716.1

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