Product Details

SNP ID
rs199565751
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:59806750 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTGGTACTCGCCATATGGCAAAC[A/G]TGTTCTTGGGGTCCATAGAGCGGTT
Phenotype
MIM: 611829 MIM: 600876
Polymorphism
A/G, 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_017840.3 567 Missense Mutation ACG,ATG T118M NP_060310.1
Gene
STX3
Gene Name
syntaxin 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001178040.1 567 Intron NP_001171511.1
NM_004177.4 567 Intron NP_004168.1
XM_005274195.3 567 Intron XP_005274252.1
XM_005274198.2 567 Intron XP_005274255.1
XM_005274200.3 567 Intron XP_005274257.1
XM_011545221.2 567 Intron XP_011543523.1
XM_017018188.1 567 Intron XP_016873677.1
XM_017018189.1 567 Intron XP_016873678.1
XM_017018190.1 567 Intron XP_016873679.1
XM_017018191.1 567 Intron XP_016873680.1
XM_017018192.1 567 Intron XP_016873681.1
XM_017018193.1 567 Intron XP_016873682.1
XM_017018194.1 567 Intron XP_016873683.1
XM_017018195.1 567 Intron XP_016873684.1
XM_017018196.1 567 Intron XP_016873685.1

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