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SNP ID

rs147836081

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:34915749 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCGGCGAGGCAAGATGGCGGCAA[C/G]CAAGAGGAAACGGCGTGGAGGCTTT

Phenotype

MIM: 603153

Polymorphism

C/G, Transversion 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	35	Missense Mutation	ACC,AGC	T4S	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	35	Intron			NP_002844.1

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