Product Details

SNP ID

rs200932289

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:129831018 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTTGGCTTAACTTTCTGTTCCTCA[C/T]GTTCCACGATCCCTTTCCTCTTCTT

Phenotype

MIM: 605204 MIM: 615143

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C9orf78 PubMed Links

Gene Details

Gene

C9orf78

Gene Name

chromosome 9 open reading frame 78

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016520.2	467	Missense Mutation	CAT,CGT	H132R	NP_057604.1
XM_011518780.2	467	Intron			XP_011517082.1

Gene

TOR1A

Gene Name

torsin family 1 member A

There are no transcripts associated with this gene.

Gene

USP20

Gene Name

ubiquitin specific peptidase 20

There are no transcripts associated with this gene.

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