Product Details

SNP ID

rs201080666

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:34923140 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATACACTTTTTTAACTAGATCTTTA[G/T]TACACCACGGTATCATCCCAAAAGC

Phenotype

MIM: 603153

Polymorphism

G/T, 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	593	Missense Mutation	AGT,ATT	S190I	NP_060791.3

Gene

DNAJC21

Gene Name

DnaJ heat shock protein family (Hsp40) member C21

There are no transcripts associated with this gene.

Gene

RAD1

Gene Name

RAD1 checkpoint DNA exonuclease

There are no transcripts associated with this gene.

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