Product Details

SNP ID

rs183842572

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:135495479 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTGTAACTGGGGTGGAAGTTGAGC[C/T]GGTCACAGGAGGTGATGCAGTTATC

Phenotype

MIM: 614502 MIM: 611971 MIM: 614056

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C9orf116 PubMed Links

Gene Details

Gene

C9orf116

Gene Name

chromosome 9 open reading frame 116

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001048265.1	423	Missense Mutation	CAG,CGG	Q120R	NP_001041730.1
NM_144654.2	423	UTR 3			NP_653255.1

Gene

LOC101928525

Gene Name

uncharacterized LOC101928525

There are no transcripts associated with this gene.

Gene

MRPS2

Gene Name

mitochondrial ribosomal protein S2

There are no transcripts associated with this gene.

Gene

PPP1R26

Gene Name

protein phosphatase 1 regulatory subunit 26

There are no transcripts associated with this gene.

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