Product Details

SNP ID

rs146992026

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:13620255 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTAAGGCTAAAAGACCAAGATCTGA[A/G]AGATTCAAGGCAACAAGCAGCACAA

Phenotype

MIM: 611533 MIM: 603854 MIM: 604483

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NOL7 PubMed Links

Gene Details

Gene

NOL7

Gene Name

nucleolar protein 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317724.1	580	Missense Mutation	AAA,AGA	K183R	NP_001304653.1
NM_016167.4	580	Missense Mutation	AAA,AGA	K183R	NP_057251.2

Gene

RANBP9

Gene Name

RAN binding protein 9

There are no transcripts associated with this gene.

Gene

SIRT5

Gene Name

sirtuin 5

There are no transcripts associated with this gene.

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