Product Details

SNP ID

rs148433455

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:57759780 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCCAGGGCGGCTACTGGTCCCAGA[A/G]CTGGGGGCTGAGTGGGCCCGTGCCG

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

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	3177	Silent Mutation	AGC,AGT	S669S	NP_001123571.1
NM_001130100.1	3177	Silent Mutation	AGC,AGT	S808S	NP_001123572.1
NM_001318710.1	3177	Silent Mutation	AGC,AGT	S830S	NP_001305639.1
NM_001318711.1	3177	Silent Mutation	AGC,AGT	S750S	NP_001305640.1
NM_001318712.1	3177	Silent Mutation	AGC,AGT	S706S	NP_001305641.1
NM_001318713.1	3177	Silent Mutation	AGC,AGT	S666S	NP_001305642.1
NM_001318714.1	3177	Silent Mutation	AGC,AGT	S669S	NP_001305643.1
NM_001318715.1	3177	Silent Mutation	AGC,AGT	S669S	NP_001305644.1
NM_005550.3	3177	Silent Mutation	AGC,AGT	S808S	NP_005541.3
XM_005255937.1	3177	Silent Mutation	AGC,AGT	S971S	XP_005255994.1
XM_005255944.1	3177	Silent Mutation	AGC,AGT	S750S	XP_005256001.1
XM_006721188.1	3177	Silent Mutation	AGC,AGT	S997S	XP_006721251.1
XM_011523075.1	3177	Silent Mutation	AGC,AGT	S857S	XP_011521377.1
XM_011523076.1	3177	Silent Mutation	AGC,AGT	S857S	XP_011521378.1
XM_011523077.1	3177	Silent Mutation	AGC,AGT	S836S	XP_011521379.1
XM_011523078.1	3177	Silent Mutation	AGC,AGT	S669S	XP_011521380.1
XM_011523079.1	3177	Silent Mutation	AGC,AGT	S669S	XP_011521381.1
XM_017023219.1	3177	Silent Mutation	AGC,AGT	S1054S	XP_016878708.1
XM_017023220.1	3177	Silent Mutation	AGC,AGT	S1032S	XP_016878709.1
XM_017023221.1	3177	Silent Mutation	AGC,AGT	S971S	XP_016878710.1
XM_017023222.1	3177	Silent Mutation	AGC,AGT	S887S	XP_016878711.1
XM_017023223.1	3177	Silent Mutation	AGC,AGT	S830S	XP_016878712.1
XM_017023224.1	3177	Silent Mutation	AGC,AGT	S887S	XP_016878713.1
XM_017023225.1	3177	Silent Mutation	AGC,AGT	S751S	XP_016878714.1
XM_017023226.1	3177	Silent Mutation	AGC,AGT	S750S	XP_016878715.1
XM_017023227.1	3177	Silent Mutation	AGC,AGT	S750S	XP_016878716.1

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