Product Details

SNP ID

rs200723298

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:51266199 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTGTAGGGTTGACATGATGAACA[A/G]TCGGTTTCGGAAGGATATGATGAAA

Phenotype

MIM: 612816

Polymorphism

A/G, 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	501	Intron			NP_057085.2
XM_006721930.3	501	Missense Mutation	AAT,AGT	N158S	XP_006721993.2
XM_011524870.2	501	Missense Mutation	AAT,AGT	N158S	XP_011523172.1

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