Product Details

SNP ID
rs199530879
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:43671832 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCAGAAGGGGTGACCCCACGGGC[A/T]TGCGCACCCTGTTCCAGCGGGGGCC
Phenotype
MIM: 611981 MIM: 612648
Polymorphism
A/T, Transversion 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_001193343.1 554 UTR 3 NP_001180272.1
NM_018135.3 554 Missense Mutation AAG,ATG K174M NP_060605.1
XM_006715134.2 554 Missense Mutation AAG,ATG K248M 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_001193341.1 554 Intron NP_001180270.1
NM_152732.4 554 Intron NP_689945.2
XM_005248901.3 554 Intron XP_005248958.1
XM_006715014.1 554 Intron XP_006715077.1
XM_017010426.1 554 Intron XP_016865915.1

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