Product Details

SNP ID
rs75507219
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:49783021 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCCTGTAAACATCACAGAGTGGCA[C/T]CATTTGTATAATTATATGCATTGTT
Phenotype
MIM: 611280 MIM: 608378
Polymorphism
C/T, Transition 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 1422 UTR 3 NP_055130.1
XM_006720094.3 1422 Intron XP_006720157.1
XM_011536610.1 1422 UTR 3 XP_011534912.1
Gene
NEMF
Gene Name
nuclear export mediator factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
XM_011537317.2 1422 Intron XP_011535619.1
XM_011537318.2 1422 Intron XP_011535620.1
XM_017021760.1 1422 UTR 3 XP_016877249.1
XM_017021761.1 1422 UTR 3 XP_016877250.1

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