Product Details

SNP ID
rs140472456
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:66874561 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTGCTGTTAAGACTCTCTCATTAA[G/T]TGGACAATTGCAGACTGAAACGCAA
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_001136160.1 390 Missense Mutation AGT,ATT S87I NP_001129632.1
NM_001136161.1 390 Missense Mutation AGT,ATT S87I NP_001129633.1
NM_173518.4 390 Missense Mutation AGT,ATT S87I NP_775789.3
XM_005251174.2 390 Missense Mutation AGT,ATT S24I XP_005251231.1
XM_006716427.3 390 Missense Mutation AGT,ATT S69I XP_006716490.1
XM_006716429.2 390 Missense Mutation AGT,ATT S87I XP_006716492.1
XM_006716433.3 390 UTR 5 XP_006716496.1
XM_011517467.2 390 Missense Mutation AGT,ATT S87I XP_011515769.1
XM_011517468.2 390 Missense Mutation AGT,ATT S87I XP_011515770.1
XM_011517469.2 390 Missense Mutation AGT,ATT S87I XP_011515771.1
XM_017013140.1 390 UTR 5 XP_016868629.1

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