Product Details

SNP ID
rs191188396
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:57741695 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTCCTTCCCTGTGTAGAAGAGATC[A/G]TCGCGCATGCCAGCAACGTGTCCTC
Phenotype
MIM: 602703
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 1092 Missense Mutation ATC,GTC I17V NP_005877.2
XM_005255772.4 1092 Missense Mutation ATC,GTC I17V XP_005255829.1
XM_006721121.3 1092 Missense Mutation ATC,GTC I17V XP_006721184.1
XM_006721122.2 1092 Missense Mutation ATC,GTC I17V XP_006721185.1
XM_006721123.3 1092 Missense Mutation ATC,GTC I17V XP_006721186.1
XM_011522810.2 1092 Missense Mutation ATC,GTC I17V XP_011521112.1
XM_017022860.1 1092 Missense Mutation ATC,GTC I17V XP_016878349.1
XM_017022861.1 1092 Missense Mutation ATC,GTC I17V XP_016878350.1
XM_017022862.1 1092 Missense Mutation ATC,GTC I17V XP_016878351.1
XM_017022863.1 1092 Missense Mutation ATC,GTC I17V XP_016878352.1
XM_017022864.1 1092 Missense Mutation ATC,GTC I17V XP_016878353.1

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