Product Details

SNP ID

rs144244912

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:41131047 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAACAGAACATGCGCTTACTGTTGA[C/G]AGCATAGAGATAGTCTCGAATTACC

Phenotype

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

KBTBD6 PubMed Links

Gene Details

Gene

KBTBD6

Gene Name

kelch repeat and BTB domain containing 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152903.4	1754	Missense Mutation	CTC,GTC	L489V	NP_690867.3

Gene

LOC101929140

Gene Name

uncharacterized LOC101929140

There are no transcripts associated with this gene.

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