Product Details

SNP ID
rs201063521
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:43671767 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGGAAGCACTGCTCTCTGTCAGT[A/G]ATACAGCTTCCAAGGTGTTCTTGAG
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_001193343.1 619 UTR 3 NP_001180272.1
NM_018135.3 619 Missense Mutation CAC,TAC H196Y NP_060605.1
XM_006715134.2 619 Missense Mutation CAC,TAC H270Y 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_001193341.1 619 Intron NP_001180270.1
NM_152732.4 619 Intron NP_689945.2
XM_005248901.3 619 Intron XP_005248958.1
XM_006715014.1 619 Intron XP_006715077.1
XM_017010426.1 619 Intron XP_016865915.1

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