Product Details

SNP ID

rs145348711

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:93212092 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGACAACTTTTTTGGATTGTACTGC[A/T]TTTGCAAGAGACCTTATCCTGATCC

Phenotype

MIM: 613816

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

GON7 PubMed Links

Gene Details

Gene

GON7

Gene Name

GON7, KEOPS complex subunit homolog

There are no transcripts associated with this gene.

Gene

UBR7

Gene Name

ubiquitin protein ligase E3 component n-recognin 7 (putative)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_175748.3	642	Missense Mutation	ATT,TTT	I136F	NP_786924.2

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