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SNP ID: rs201686582
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.7:43877445 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTCCTTCAGGAGCCCTGTGACCCAG[C/T]GGACGGGCATGCTCAGCGTGCTCCC
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	2507	Missense Mutation	CAC,CGC	H673R	NP_001071131.1
NM_001077664.2	2507	Missense Mutation	CAC,CGC	H630R	NP_001071132.1
NM_001290075.1	2507	Missense Mutation	CAC,CGC	H630R	NP_001277004.1
NM_001290076.1	2507	Missense Mutation	CAC,CGC	H630R	NP_001277005.1
NM_017920.4	2507	Missense Mutation	CAC,CGC	H664R	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	2507	Intron			NP_001191800.1

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