Product Details

SNP ID
rs140073013
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:59806638 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCATCTCTACAACAAGGCGGCCAGC[C/G]TTCACAGGTGTCACGTAGTGGTCAA
Phenotype
MIM: 611829 MIM: 600876
Polymorphism
C/G, Transversion 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_017840.3 679 Missense Mutation AAC,AAG N155K NP_060310.1
Gene
STX3
Gene Name
syntaxin 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001178040.1 679 Intron NP_001171511.1
NM_004177.4 679 Intron NP_004168.1
XM_005274195.3 679 Intron XP_005274252.1
XM_005274198.2 679 Intron XP_005274255.1
XM_005274200.3 679 Intron XP_005274257.1
XM_011545221.2 679 Intron XP_011543523.1
XM_017018188.1 679 Intron XP_016873677.1
XM_017018189.1 679 Intron XP_016873678.1
XM_017018190.1 679 Intron XP_016873679.1
XM_017018191.1 679 Intron XP_016873680.1
XM_017018192.1 679 Intron XP_016873681.1
XM_017018193.1 679 Intron XP_016873682.1
XM_017018194.1 679 Intron XP_016873683.1
XM_017018195.1 679 Intron XP_016873684.1
XM_017018196.1 679 Intron XP_016873685.1

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