Product Details

SNP ID

rs2286653

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:93207310 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GTTGAGGATGGCCGGAGCCGAGGGC[A/G]CCGCTGGGCGGCAGTCGGAGCTGGA

Phenotype

MIM: 613816

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GON7 PubMed Links

Gene Details

Gene

GON7

Gene Name

GON7, KEOPS complex subunit homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032490.4	255	Intron			NP_115879.2

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	255	Missense Mutation	ACC,GCC	T7A	NP_786924.2

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