Product Details

SNP ID

rs2069465

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:34915843 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGCCGCCAGCTAAGCGGCACGCCAC[A/G]GCAGAGGAGGTGGAGGAAGAAGAGA

Phenotype

MIM: 603153

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BRIX1 PubMed Links

Gene Details

Gene

BRIX1

Gene Name

BRX1, biogenesis of ribosomes

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018321.3	129	Silent Mutation	ACA,ACG	T35T	NP_060791.3

Gene

RAD1

Gene Name

RAD1 checkpoint DNA exonuclease

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002853.3	129	Intron			NP_002844.1

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