Product Details

SNP ID

rs80180585

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:57758745 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACAGCCGAGAGACACCGTTTCCTT[C/G]TGAACATGTTTCTCATCTTTGAGGG

Phenotype

MIM: 602703 MIM: 604535

Polymorphism

C/G, 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	3394	UTR 3			NP_001123571.1
NM_001130100.1	3394	UTR 3			NP_001123572.1
NM_001318710.1	3394	UTR 3			NP_001305639.1
NM_001318711.1	3394	UTR 3			NP_001305640.1
NM_001318712.1	3394	UTR 3			NP_001305641.1
NM_001318713.1	3394	UTR 3			NP_001305642.1
NM_001318714.1	3394	UTR 3			NP_001305643.1
NM_001318715.1	3394	UTR 3			NP_001305644.1
NM_005550.3	3394	UTR 3			NP_005541.3
XM_005255937.1	3394	UTR 3			XP_005255994.1
XM_005255944.1	3394	UTR 3			XP_005256001.1
XM_006721188.1	3394	UTR 3			XP_006721251.1
XM_011523075.1	3394	UTR 3			XP_011521377.1
XM_011523076.1	3394	UTR 3			XP_011521378.1
XM_011523077.1	3394	UTR 3			XP_011521379.1
XM_011523078.1	3394	UTR 3			XP_011521380.1
XM_011523079.1	3394	UTR 3			XP_011521381.1
XM_017023219.1	3394	UTR 3			XP_016878708.1
XM_017023220.1	3394	UTR 3			XP_016878709.1
XM_017023221.1	3394	UTR 3			XP_016878710.1
XM_017023222.1	3394	UTR 3			XP_016878711.1
XM_017023223.1	3394	UTR 3			XP_016878712.1
XM_017023224.1	3394	UTR 3			XP_016878713.1
XM_017023225.1	3394	UTR 3			XP_016878714.1
XM_017023226.1	3394	UTR 3			XP_016878715.1
XM_017023227.1	3394	UTR 3			XP_016878716.1

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