Product Details

SNP ID

rs148804845

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:13774558 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCGGCAGCCTCTGAAAAGAATCG[A/G]GGCCCAAGAAAAGGCGGTAAGGAGC

Phenotype

MIM: 615105

Polymorphism

A/G, Transition 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	116	Silent Mutation	CGA,CGG	R27R	NP_054766.1

Gene

MRI1

Gene Name

methylthioribose-1-phosphate isomerase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_011528355.2	116	Intron			XP_011526657.1
XM_011528356.2	116	Intron			XP_011526658.1
XM_011528357.2	116	Intron			XP_011526659.1

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