Product Details

SNP ID
rs78803387
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:51260594 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCTCAAACCTAACGATGCCGCCG[C/G]AGCGGAGGAGACGAATGAAACTGGA
Phenotype
MIM: 612816
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
MBTD1 PubMed Links

Gene Details

Gene
MBTD1
Gene Name
mbt domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017643.2 38 Intron NP_060113.2
XM_005257467.4 38 Intron XP_005257524.1
XM_005257468.4 38 Intron XP_005257525.1
XM_011524922.2 38 Intron XP_011523224.1
XM_011524923.2 38 Intron XP_011523225.1
XM_011524924.2 38 Intron XP_011523226.1
XM_011524925.1 38 Intron XP_011523227.1
XM_011524926.2 38 Intron XP_011523228.1
XM_011524928.2 38 Intron XP_011523230.1
XM_011524929.2 38 Intron XP_011523231.1
XM_011524930.1 38 Intron XP_011523232.1
XM_011524931.2 38 Intron XP_011523233.1
XM_011524933.2 38 Intron XP_011523235.1
XM_011524934.2 38 Intron XP_011523236.1
XM_011524935.2 38 Intron XP_011523237.1
XM_011524936.1 38 Intron XP_011523238.1
XM_017024782.1 38 Intron XP_016880271.1
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 38 Intron NP_057085.2
XM_006721930.3 38 Missense Mutation CAG,GAG Q4E XP_006721993.2
XM_011524870.2 38 Missense Mutation CAG,GAG Q4E XP_011523172.1

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