Product Details

SNP ID
rs199949364
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.6:73242057 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAGTTCAGCCAAGGATACCTACCT[C/T]GAGCATGATGATAGGAGTCCTGGCT
Phenotype
MIM: 611688
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
KHDC1 PubMed Links

Gene Details

Gene
KHDC1
Gene Name
KH homology domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001251874.1 729 Missense Mutation NP_001238803.1
NM_030568.4 729 Missense Mutation NP_085045.3

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