Product Details

SNP ID
rs200461478
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:43671791 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGATACAGCTTCCAAGGTGTTCTTG[A/G]GTAGCAGACATTGTCCCTCAGAAGG
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_001193343.1 595 UTR 3 NP_001180272.1
NM_018135.3 595 Missense Mutation CCA,TCA P188S NP_060605.1
XM_006715134.2 595 Missense Mutation CCA,TCA P262S 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_001193341.1 595 Intron NP_001180270.1
NM_152732.4 595 Intron NP_689945.2
XM_005248901.3 595 Intron XP_005248958.1
XM_006715014.1 595 Intron XP_006715077.1
XM_017010426.1 595 Intron XP_016865915.1

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