Product Details

SNP ID
rs146704201
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:66874542 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAATCACAGGTCTGTTTTATTGCT[G/T]TTAAGACTCTCTCATTAATTGGACA
Phenotype
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
MCMDC2 PubMed Links

Gene Details

Gene
MCMDC2
Gene Name
minichromosome maintenance domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001136160.1 371 Missense Mutation GTT,TTT V81F NP_001129632.1
NM_001136161.1 371 Missense Mutation GTT,TTT V81F NP_001129633.1
NM_173518.4 371 Missense Mutation GTT,TTT V81F NP_775789.3
XM_005251174.2 371 Missense Mutation GTT,TTT V18F XP_005251231.1
XM_006716427.3 371 Missense Mutation GTT,TTT V63F XP_006716490.1
XM_006716429.2 371 Missense Mutation GTT,TTT V81F XP_006716492.1
XM_006716433.3 371 UTR 5 XP_006716496.1
XM_011517467.2 371 Missense Mutation GTT,TTT V81F XP_011515769.1
XM_011517468.2 371 Missense Mutation GTT,TTT V81F XP_011515770.1
XM_011517469.2 371 Missense Mutation GTT,TTT V81F XP_011515771.1
XM_017013140.1 371 UTR 5 XP_016868629.1

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