Product Details

SNP ID
rs140230502
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:59806663 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTCACAGGTGTCACGTAGTGGTCA[A/G]TAGCACCTTTGCCTCCCCCCATGCG
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_017840.3 654 Missense Mutation ACT,ATT T147I NP_060310.1
Gene
STX3
Gene Name
syntaxin 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001178040.1 654 Intron NP_001171511.1
NM_004177.4 654 Intron NP_004168.1
XM_005274195.3 654 Intron XP_005274252.1
XM_005274198.2 654 Intron XP_005274255.1
XM_005274200.3 654 Intron XP_005274257.1
XM_011545221.2 654 Intron XP_011543523.1
XM_017018188.1 654 Intron XP_016873677.1
XM_017018189.1 654 Intron XP_016873678.1
XM_017018190.1 654 Intron XP_016873679.1
XM_017018191.1 654 Intron XP_016873680.1
XM_017018192.1 654 Intron XP_016873681.1
XM_017018193.1 654 Intron XP_016873682.1
XM_017018194.1 654 Intron XP_016873683.1
XM_017018195.1 654 Intron XP_016873684.1
XM_017018196.1 654 Intron XP_016873685.1

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