Product Details

SNP ID

rs147072216

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:67003703 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAAATGCATACGTTTTCCTCTGATG[A/G]AAGATACCTTTATAGAGAAAATTCC

Phenotype

MIM: 616607

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KBTBD8 PubMed Links

Gene Details

Gene

KBTBD8

Gene Name

kelch repeat and BTB domain containing 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032505.2	574	Missense Mutation	AAA,GAA	K246E	NP_115894.2
XM_005264771.3	574	Missense Mutation	AAA,GAA	K169E	XP_005264828.1

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