Product Details

SNP ID

rs200914019

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:128055710 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGATCATGTCTTCAGATTCAGCTG[A/G]CCCTTTCTATTGGATGAGAGTGATT

Phenotype

MIM: 603449 MIM: 609213

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

RUVBL1 PubMed Links

Gene Details

Gene

RUVBL1

Gene Name

RuvB like AAA ATPase 1

There are no transcripts associated with this gene.

Gene

SEC61A1

Gene Name

Sec61 translocon alpha 1 subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_013336.3	363	Missense Mutation	GAC,GGC	D60G	NP_037468.1

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