Product Details

SNP ID

rs14180

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.17:51260896 on Build GRCh38

Set Membership

Validated

Context Sequence [VIC/FAM]

TCGGCGACGTCGAGAACGACGAGGA[C/T]GCGTTGCTGCGGCGTCTGCGAGGCC

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017643.2	340	Intron			NP_060113.2
XM_005257467.4	340	Intron			XP_005257524.1
XM_005257468.4	340	Intron			XP_005257525.1
XM_011524922.2	340	Intron			XP_011523224.1
XM_011524923.2	340	Intron			XP_011523225.1
XM_011524924.2	340	Intron			XP_011523226.1
XM_011524925.1	340	Intron			XP_011523227.1
XM_011524926.2	340	Intron			XP_011523228.1
XM_011524928.2	340	Intron			XP_011523230.1
XM_011524929.2	340	Intron			XP_011523231.1
XM_011524930.1	340	Intron			XP_011523232.1
XM_011524931.2	340	Intron			XP_011523233.1
XM_011524933.2	340	Intron			XP_011523235.1
XM_011524934.2	340	Intron			XP_011523236.1
XM_011524935.2	340	Intron			XP_011523237.1
XM_011524936.1	340	Intron			XP_011523238.1
XM_017024782.1	340	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	340	Intron			NP_057085.2
XM_006721930.3	340	Silent Mutation	GAC,GAT	D104D	XP_006721993.2
XM_011524870.2	340	Silent Mutation	GAC,GAT	D104D	XP_011523172.1

View Full Product Details