Product Details

SNP ID

rs143901157

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:34933841 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAAAAATCTGGATAATGCCGCAGAA[A/G]CAGCTGAACAATTTAAATTAATCCA

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BRIX1 PubMed Links

Gene Details

Gene

BRIX1

Gene Name

BRX1, biogenesis of ribosomes

There are no transcripts associated with this gene.

Gene

DNAJC21

Gene Name

DnaJ heat shock protein family (Hsp40) member C21

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001012339.2	351	Missense Mutation	ACA,GCA	T42A	NP_001012339.2
NM_194283.3	351	Missense Mutation	ACA,GCA	T42A	NP_919259.3
XM_005248249.4	351	Missense Mutation	ACA,GCA	T129A	XP_005248306.2
XM_005248250.3	351	Missense Mutation	ACA,GCA	T129A	XP_005248307.2
XM_011513965.2	351	Missense Mutation	ACA,GCA	T129A	XP_011512267.2
XM_011513966.2	351	Missense Mutation	ACA,GCA	T129A	XP_011512268.2

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