Product Details

SNP ID
rs201502223
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:87164028 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCCACATAATCCCACTTGTTGCTT[C/T]GGGGGTCATACCGCTCAACTGAACT
Phenotype
MIM: 611967
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KLHL8 PubMed Links

Gene Details

Gene
KLHL8
Gene Name
kelch like family member 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001292003.1 1931 Missense Mutation CAA,CGA Q530R NP_001278932.1
NM_001292006.1 1931 Missense Mutation CAA,CGA Q454R NP_001278935.1
NM_001292007.1 1931 Missense Mutation CAA,CGA Q347R NP_001278936.1
NM_020803.4 1931 Missense Mutation CAA,CGA Q530R NP_065854.3

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