Product Details

SNP ID
rs200128571
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:20442171 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCTGGCTGCGGTCAGGGGTCCCGC[A/G]GGGCGGCTCAAGGAGCAGGGAGCGG
Phenotype
MIM: 613619
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
KLHL22 PubMed Links

Gene Details

Gene
KLHL22
Gene Name
kelch like family member 22
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032775.3 4524 Missense Mutation CGC,TGC R603C NP_116164.2
XM_017029018.1 4524 Missense Mutation CGC,TGC R671C XP_016884507.1
XM_017029019.1 4524 Missense Mutation CGC,TGC R651C XP_016884508.1
XM_017029020.1 4524 Missense Mutation CGC,TGC R635C XP_016884509.1
XM_017029021.1 4524 Missense Mutation CGC,TGC R603C XP_016884510.1
XM_017029022.1 4524 Missense Mutation CGC,TGC R585C XP_016884511.1
XM_017029023.1 4524 Missense Mutation CGC,TGC R569C XP_016884512.1
XM_017029024.1 4524 Missense Mutation CGC,TGC R563C XP_016884513.1
XM_017029025.1 4524 Missense Mutation CGC,TGC R526C XP_016884514.1
Gene
SCARF2
Gene Name
scavenger receptor class F member 2
There are no transcripts associated with this gene.

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