Product Details

SNP ID
rs149407688
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:59806778 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTTGGGGTCCATAGAGCGGTTGA[C/T]TGTCAGGCGCATCATTTCAAAGTGG
Phenotype
MIM: 611829 MIM: 600876
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MRPL16 PubMed Links

Gene Details

Gene
MRPL16
Gene Name
mitochondrial ribosomal protein L16
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017840.3 539 Missense Mutation ATC,GTC I109V NP_060310.1
Gene
STX3
Gene Name
syntaxin 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001178040.1 539 Intron NP_001171511.1
NM_004177.4 539 Intron NP_004168.1
XM_005274195.3 539 Intron XP_005274252.1
XM_005274198.2 539 Intron XP_005274255.1
XM_005274200.3 539 Intron XP_005274257.1
XM_011545221.2 539 Intron XP_011543523.1
XM_017018188.1 539 Intron XP_016873677.1
XM_017018189.1 539 Intron XP_016873678.1
XM_017018190.1 539 Intron XP_016873679.1
XM_017018191.1 539 Intron XP_016873680.1
XM_017018192.1 539 Intron XP_016873681.1
XM_017018193.1 539 Intron XP_016873682.1
XM_017018194.1 539 Intron XP_016873683.1
XM_017018195.1 539 Intron XP_016873684.1
XM_017018196.1 539 Intron XP_016873685.1

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