Product Details

SNP ID

rs145472895

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:97436486 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCGGGTTGTACTCGGGCTACTTTCC[A/G]GAATTCTTTAGTGTGGGTCTTAGGG

Phenotype

MIM: 606493 MIM: 172250 MIM: 616750

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EXOSC1 PubMed Links

Gene Details

Gene

EXOSC1

Gene Name

exosome component 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318362.1	487	Missense Mutation	CGG,TGG	R158W	NP_001305291.1
NM_001318363.1	487	Missense Mutation	CGG,TGG	R140W	NP_001305292.1
NM_001318364.1	487	Missense Mutation	CGG,TGG	R117W	NP_001305293.1
NM_001318365.1	487	Missense Mutation	CGG,TGG	R97W	NP_001305294.1
NM_001318366.1	487	Missense Mutation	CGG,TGG	R97W	NP_001305295.1
NM_016046.4	487	Missense Mutation	CGG,TGG	R183W	NP_057130.1
XM_011539847.2	487	Missense Mutation	CGG,TGG	R148W	XP_011538149.1
XM_017016304.1	487	Missense Mutation	CGG,TGG	R114W	XP_016871793.1

Gene

PGAM1

Gene Name

phosphoglycerate mutase 1

There are no transcripts associated with this gene.

Gene

ZDHHC16

Gene Name

zinc finger DHHC-type containing 16

There are no transcripts associated with this gene.

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