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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