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SNP ID

rs114546200

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:93206387 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCAGGAACTGAGTCGCATTCACC[C/T]CATTCTTCCTCCAGGGCTCAGCTCA

Phenotype

MIM: 613816

Polymorphism

C/T, 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		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		Intron			NP_786924.2

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