Product Details

SNP ID

rs192406963

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:65078149 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGACCTTTCTCCTAAGGCTGCCTC[C/T]TGGCGCTCCTGGGCCTGTGACTTCG

Phenotype

MIM: 613727

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KBTBD13 PubMed Links

Gene Details

Gene

KBTBD13

Gene Name

kelch repeat and BTB domain containing 13

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001101362.2	1334	Missense Mutation	CCT,CTT	P445L	NP_001094832.1

Gene

RASL12

Gene Name

RAS like family 12

There are no transcripts associated with this gene.

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