Product Details

SNP ID
rs199561467
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:59806652 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGCGGCCAGCCTTCACAGGTGTCA[C/T]GTAGTGGTCAATAGCACCTTTGCCT
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_017840.3 665 Missense Mutation ATG,GTG M151V NP_060310.1
Gene
STX3
Gene Name
syntaxin 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001178040.1 665 Intron NP_001171511.1
NM_004177.4 665 Intron NP_004168.1
XM_005274195.3 665 Intron XP_005274252.1
XM_005274198.2 665 Intron XP_005274255.1
XM_005274200.3 665 Intron XP_005274257.1
XM_011545221.2 665 Intron XP_011543523.1
XM_017018188.1 665 Intron XP_016873677.1
XM_017018189.1 665 Intron XP_016873678.1
XM_017018190.1 665 Intron XP_016873679.1
XM_017018191.1 665 Intron XP_016873680.1
XM_017018192.1 665 Intron XP_016873681.1
XM_017018193.1 665 Intron XP_016873682.1
XM_017018194.1 665 Intron XP_016873683.1
XM_017018195.1 665 Intron XP_016873684.1
XM_017018196.1 665 Intron XP_016873685.1

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