Product Details

SNP ID

rs201693852

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:121804635 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTCACTATCAGGTTTGGCAAATAC[C/G]TGTAGACCTACATTTATTAAATCAT

Phenotype

MIM: 606180

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

EXOSC9 PubMed Links

Gene Details

Gene

EXOSC9

Gene Name

exosome component 9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001034194.1	506	Missense Mutation	CCT,CGT	P133R	NP_001029366.1
NM_005033.2	506	Missense Mutation	CCT,CGT	P133R	NP_005024.2
XM_011532035.2	506	Missense Mutation	CCT,CGT	P133R	XP_011530337.1

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