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SNP ID

rs146957739

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:13778078 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTAGAAGTCGGAATCCGGAAGAA[C/G]ATCGAACATGACGTGGTGATGAAAG

Phenotype

MIM: 615105

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

C19orf53 PubMed Links

Gene Details

Gene

C19orf53

Gene Name

chromosome 19 open reading frame 53

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014047.2	215	Missense Mutation	AAC,AAG	N60K	NP_054766.1

Gene

MRI1

Gene Name

methylthioribose-1-phosphate isomerase 1

There are no transcripts associated with this gene.

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