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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