Product Details

SNP ID
rs201176678
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:87163970 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAAGATTTTGCCCATCACTGTTGC[A/G]ATTCCCACTCCACCTCTGGGAGTAG
Phenotype
MIM: 611967
Polymorphism
A/G, 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 1989 Silent Mutation ATC,ATT I549I NP_001278932.1
NM_001292006.1 1989 Silent Mutation ATC,ATT I473I NP_001278935.1
NM_001292007.1 1989 Silent Mutation ATC,ATT I366I NP_001278936.1
NM_020803.4 1989 Silent Mutation ATC,ATT I549I NP_065854.3

View Full Product Details