Product Details

SNP ID

rs200047779

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:69137876 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATCCAGTTTGAAAGAAATTTTGAT[C/T]GGCAGAAAAGTAAGCGTCATTTTTC

Phenotype

MIM: 613202 MIM: 607456

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CHTF8 PubMed Links

Gene Details

Gene

CHTF8

Gene Name

chromosome transmission fidelity factor 8

There are no transcripts associated with this gene.

Gene

UTP4

Gene Name

UTP4, small subunit processome component

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318391.1	469	Missense Mutation	CGG,TGG	R60W	NP_001305320.1
NM_032830.2	469	Missense Mutation	CGG,TGG	R143W	NP_116219.2
XM_005256205.3	469	Intron			XP_005256262.2

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