Product Details

SNP ID
rs199940623
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:43671850 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACGGGCATGCGCACCCTGTTCCAG[C/T]GGGGGCCTTTTTTGTAGATGGGCTT
Phenotype
MIM: 611981 MIM: 612648
Polymorphism
C/T, 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_001193343.1 536 UTR 3 NP_001180272.1
NM_018135.3 536 Missense Mutation CAC,CGC H168R NP_060605.1
XM_006715134.2 536 Missense Mutation CAC,CGC H242R 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_001193341.1 536 Intron NP_001180270.1
NM_152732.4 536 Intron NP_689945.2
XM_005248901.3 536 Intron XP_005248958.1
XM_006715014.1 536 Intron XP_006715077.1
XM_017010426.1 536 Intron XP_016865915.1

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