Product Details

SNP ID

rs201901707

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:43876884 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGAAGGCCAGGCCTGCCAGTGCC[C/T]GGAAGCCGTCGCCCTGTTTCTCCAT

Phenotype

MIM: 611986 MIM: 610337

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MRPS24 PubMed Links

Gene Details

Gene

MRPS24

Gene Name

mitochondrial ribosomal protein S24

There are no transcripts associated with this gene.

Gene

URGCP

Gene Name

upregulator of cell proliferation

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001077663.2	3068	Missense Mutation	CAG,CGG	Q860R	NP_001071131.1
NM_001077664.2	3068	Missense Mutation	CAG,CGG	Q817R	NP_001071132.1
NM_001290075.1	3068	Missense Mutation	CAG,CGG	Q817R	NP_001277004.1
NM_001290076.1	3068	Missense Mutation	CAG,CGG	Q817R	NP_001277005.1
NM_017920.4	3068	Missense Mutation	CAG,CGG	Q851R	NP_060390.3

Gene

URGCP-MRPS24

Gene Name

URGCP-MRPS24 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001204871.1	3068	Intron			NP_001191800.1

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