Product Details

SNP ID: rs116048760
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.6:118815808 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GTGCTAGCCTTTTTTTCTTGTTACT[G/T]TCCACATTGTCTGCCCTCCATGGAA
Phenotype: MIM: 610098
Polymorphism: G/T, Transversion substitution
Allele Nomenclature
Literature Links: MCM9 PubMed Links

Gene Details

Gene: MCM9
Gene Name: minichromosome maintenance 9 homologous recombination repair factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017696.2	2463	Missense Mutation	GAA,GAC	E816D	NP_060166.2
NM_153255.4	2463	Intron			NP_694987.1