Product Details

SNP ID
rs149129991
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:5952457 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACAGTTTTTGCTTTCAACAAAGA[C/T]CCCACAGTCAATGCAGTCAACATTG
Phenotype
MIM: 608187
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MCM8 PubMed Links

Gene Details

Gene
MCM8
Gene Name
minichromosome maintenance 8 homologous recombination repair factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001281520.1 559 Missense Mutation ACC,ATC T61I NP_001268449.1
NM_001281521.1 559 Missense Mutation ACC,ATC T61I NP_001268450.1
NM_001281522.1 559 Missense Mutation ACC,ATC T61I NP_001268451.1
NM_032485.5 559 Missense Mutation ACC,ATC T61I NP_115874.3
NM_182802.2 559 Missense Mutation ACC,ATC T61I NP_877954.1
XM_011529387.2 559 Missense Mutation ACC,ATC T61I XP_011527689.1
XM_017028105.1 559 Missense Mutation ACC,ATC T61I XP_016883594.1
XM_017028106.1 559 UTR 5 XP_016883595.1
XM_017028107.1 559 Intron XP_016883596.1
Gene
TRMT6
Gene Name
tRNA methyltransferase 6
There are no transcripts associated with this gene.

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