Product Details

SNP ID

rs143644178

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:135501904 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACTCTGACTTCTTCAATGTCAAGG[A/T]ACTGTTTTCCGTGAGAAGCCTCTTC

Phenotype

MIM: 614502 MIM: 611971

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

C9orf116 PubMed Links

Gene Details

Gene

C9orf116

Gene Name

chromosome 9 open reading frame 116

There are no transcripts associated with this gene.

Gene

LOC101928525

Gene Name

uncharacterized LOC101928525

There are no transcripts associated with this gene.

Gene

MRPS2

Gene Name

mitochondrial ribosomal protein S2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016034.4	434	Missense Mutation	GAA,GTA	E77V	NP_057118.1
XM_006717136.3	434	Missense Mutation	GAA,GTA	E100V	XP_006717199.1

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