Product Details

SNP ID
rs200626450
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:43671896 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTTGACGGAGCCAGGAGCCCAGC[A/G]CGTCAGGTACCTGTGGAGGGAGAAC
Phenotype
MIM: 611981 MIM: 612648
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MRPS18A PubMed Links

Gene Details

Gene
MRPS18A
Gene Name
mitochondrial ribosomal protein S18A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001193343.1 490 UTR 3 NP_001180272.1
NM_018135.3 490 Missense Mutation CGC,TGC R153C NP_060605.1
XM_006715134.2 490 Missense Mutation CGC,TGC R227C XP_006715197.1
Gene
RSPH9
Gene Name
radial spoke head 9 homolog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001193341.1 490 Intron NP_001180270.1
NM_152732.4 490 Intron NP_689945.2
XM_005248901.3 490 Intron XP_005248958.1
XM_006715014.1 490 Intron XP_006715077.1
XM_017010426.1 490 Intron XP_016865915.1

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