Product Details

SNP ID
rs139824427
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.22:20442349 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCACCTAACACATAGATCCTGTT[G/T]TCCAGCACAGCAATGCCAGGCTCAC
Phenotype
MIM: 613619
Polymorphism
G/T, Transversion 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 4346 Missense Mutation GAA,GAC E543D NP_116164.2
XM_017029018.1 4346 Missense Mutation GAA,GAC E611D XP_016884507.1
XM_017029019.1 4346 Missense Mutation GAA,GAC E591D XP_016884508.1
XM_017029020.1 4346 Missense Mutation GAA,GAC E575D XP_016884509.1
XM_017029021.1 4346 Missense Mutation GAA,GAC E543D XP_016884510.1
XM_017029022.1 4346 Missense Mutation GAA,GAC E525D XP_016884511.1
XM_017029023.1 4346 Missense Mutation GAA,GAC E509D XP_016884512.1
XM_017029024.1 4346 Missense Mutation GAA,GAC E503D XP_016884513.1
XM_017029025.1 4346 Missense Mutation GAA,GAC E466D 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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