Product Details

SNP ID
rs139279490
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:20442279 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCTCCCAGCAGTCCTTCTCCACAT[C/T]GTAAATGTGCACGTAGCCTGTGCGG
Phenotype
MIM: 613619
Polymorphism
C/T, 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 4416 Missense Mutation AAT,GAT N567D NP_116164.2
XM_017029018.1 4416 Missense Mutation AAT,GAT N635D XP_016884507.1
XM_017029019.1 4416 Missense Mutation AAT,GAT N615D XP_016884508.1
XM_017029020.1 4416 Missense Mutation AAT,GAT N599D XP_016884509.1
XM_017029021.1 4416 Missense Mutation AAT,GAT N567D XP_016884510.1
XM_017029022.1 4416 Missense Mutation AAT,GAT N549D XP_016884511.1
XM_017029023.1 4416 Missense Mutation AAT,GAT N533D XP_016884512.1
XM_017029024.1 4416 Missense Mutation AAT,GAT N527D XP_016884513.1
XM_017029025.1 4416 Missense Mutation AAT,GAT N490D 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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