Product Details

SNP ID
rs147396578
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:49777857 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGACAGTTCTACATGCTGGATTCA[A/G]GGTCTACAGACAGAGTGTTACAGTG
Phenotype
MIM: 611280 MIM: 608378
Polymorphism
A/G, 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_014315.2 503 Missense Mutation AGG,GGG R124G NP_055130.1
XM_006720094.3 503 Missense Mutation AGG,GGG R124G XP_006720157.1
XM_011536610.1 503 Missense Mutation AGG,GGG R52G XP_011534912.1
Gene
NEMF
Gene Name
nuclear export mediator factor
There are no transcripts associated with this gene.

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