Product Details

SNP ID

rs140989771

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:41387597 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCAGGGCAAAGGTCAGGACTGCCC[A/G]GGCCTCCTAGGGACAAGGGGTAGAA

Phenotype

MIM: 606492

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EXOSC5 PubMed Links

Gene Details

Gene

EXOSC5

Gene Name

exosome component 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020158.3	555	Missense Mutation	CGG,TGG	R178W	NP_064543.3

Gene

TMEM91

Gene Name

transmembrane protein 91

There are no transcripts associated with this gene.

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