Product Details

SNP ID

rs142716887

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:51261448 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACCTGTTAGTTGCCAGATACCCTT[C/T]CTGGCAATGGCAAACCCTGCGTGAT

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		Intron			NP_060113.2
XM_005257467.4		Intron			XP_005257524.1
XM_005257468.4		Intron			XP_005257525.1
XM_011524922.2		Intron			XP_011523224.1
XM_011524923.2		Intron			XP_011523225.1
XM_011524924.2		Intron			XP_011523226.1
XM_011524925.1		Intron			XP_011523227.1
XM_011524926.2		Intron			XP_011523228.1
XM_011524928.2		Intron			XP_011523230.1
XM_011524929.2		Intron			XP_011523231.1
XM_011524930.1		Intron			XP_011523232.1
XM_011524931.2		Intron			XP_011523233.1
XM_011524933.2		Intron			XP_011523235.1
XM_011524934.2		Intron			XP_011523236.1
XM_011524935.2		Intron			XP_011523237.1
XM_011524936.1		Intron			XP_011523238.1
XM_017024782.1		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		Intron			NP_057085.2
XM_006721930.3		Intron			XP_006721993.2
XM_011524870.2		Intron			XP_011523172.1

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