Product Details

SNP ID
rs201637382
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:51268851 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTTTGCTTAGATTCCAACATGCCA[C/T]GGGAGGAGTACCTGCCTGGGCAGAG
Phenotype
MIM: 612816
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
MBTD1 PubMed Links

Gene Details

Gene
MBTD1
Gene Name
mbt domain containing 1
There are no transcripts associated with this gene.

Gene
UTP18
Gene Name
UTP18, small subunit processome component
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_016001.2 597 Intron NP_057085.2
XM_006721930.3 597 Missense Mutation ACG,ATG T190M XP_006721993.2
XM_011524870.2 597 Missense Mutation ACG,ATG T190M XP_011523172.1

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