Product Details

SNP ID
rs201822948
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:49786746 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTTCCCTGTTGATCCAGATCTTGC[A/T]CTTCCTGTTCCGAACATATAAAAAT
Phenotype
MIM: 611280 MIM: 608378
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
KLHDC2 PubMed Links

Gene Details

Gene
KLHDC2
Gene Name
kelch domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014315.2 2895 Intron NP_055130.1
Gene
NEMF
Gene Name
nuclear export mediator factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
XM_011537317.2 2895 Intron XP_011535619.1
XM_011537318.2 2895 Intron XP_011535620.1
XM_017021760.1 2895 Missense Mutation GAG,GTG E738V XP_016877249.1
XM_017021761.1 2895 Missense Mutation GAG,GTG E738V XP_016877250.1

View Full Product Details